Canonical Allele Identifier: CA4650985

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 1437707
• ClinVar RCV Id: RCV001934081
• dbSNP Id: rs375066686
• ExAC: 8:17928823 C / G
• gnomAD v2: 8-17928823-C-G
• gnomAD v3: 8-18071314-C-G
• gnomAD v4: 8-18071314-C-G
• MyVariant Identifiers: chr8:g.17928823C>G (hg19) ; chr8:g.18071314C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18071314C>G , CM000670.2:g.18071314C>G	GRCh38
NC_000008.10:g.17928823C>G , CM000670.1:g.17928823C>G	GRCh37
NC_000008.9:g.17973103C>G	NCBI36
NG_008985.1:g.18685G>C
NG_008985.2:g.18685G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.250G>C	ENSP00000371152.4:p.Asp84His
ENST00000518087.7:c.*38G>C	ENSP00000490753.1:n.*38G>C
ENST00000519545.6:n.219G>C
ENST00000520781.6:c.202G>C	ENSP00000427751.1:p.Asp68His
ENST00000523593.6:c.*45G>C	ENSP00000490700.1:n.*45G>C
ENST00000635769.1:c.223G>C	ENSP00000490485.1:p.Asp75His
ENST00000635944.1:c.*38G>C	ENSP00000490195.1:n.*38G>C
ENST00000635998.1:c.202G>C	ENSP00000490506.1:p.Asp68His
ENST00000636009.1:c.134G>C	ENSP00000489988.1:n.134G>C
ENST00000636033.1:c.*38G>C	ENSP00000489617.1:n.*38G>C
ENST00000636050.1:c.*45G>C	ENSP00000490562.1:n.*45G>C
ENST00000636128.1:c.202G>C	ENSP00000489789.1:p.Asp68His
ENST00000636160.1:c.*94G>C	ENSP00000489651.1:n.*94G>C
ENST00000636171.1:c.202G>C	ENSP00000489761.1:p.Asp68His
ENST00000636269.1:c.7G>C	ENSP00000490738.1:p.Asp3His
ENST00000636299.1:c.174-1442G>C	ENSP00000490202.1:n.174-1442G>C
ENST00000636435.1:n.286G>C
ENST00000636455.1:c.250G>C	ENSP00000490502.1:p.Asp84His
ENST00000636494.1:c.126-1436G>C	ENSP00000490388.1:n.126-1436G>C
ENST00000636537.1:c.250G>C	ENSP00000489914.1:p.Asp84His
ENST00000636577.1:c.202G>C	ENSP00000490027.1:p.Asp68His
ENST00000636691.1:c.7G>C	ENSP00000490725.1:p.Asp3His
ENST00000636701.1:c.126-4016G>C	ENSP00000489800.1:n.126-4016G>C
ENST00000636715.1:c.174-1436G>C	ENSP00000490876.1:n.174-1436G>C
ENST00000636815.1:c.134-1436G>C
ENST00000636823.1:c.7G>C	ENSP00000490798.1:p.Asp3His
ENST00000636828.1:n.378G>C
ENST00000636920.1:c.*38G>C	ENSP00000490437.1:n.*38G>C
ENST00000636997.1:c.202G>C	ENSP00000490093.1:p.Asp68His
ENST00000637013.1:c.*414G>C	ENSP00000490596.1:n.*414G>C
ENST00000637095.1:c.185+17G>C	ENSP00000490415.1:n.185+17G>C
ENST00000637202.1:c.126-1436G>C	ENSP00000490129.1:n.126-1436G>C
ENST00000637244.1:c.*720G>C	ENSP00000490188.1:n.*720G>C
ENST00000637429.1:c.*414G>C	ENSP00000490522.1:n.*414G>C
ENST00000637484.1:c.*239G>C	ENSP00000490837.1:n.*239G>C
ENST00000637528.1:c.202G>C	ENSP00000490801.1:p.Asp68His
ENST00000637536.1:c.556G>C	ENSP00000490464.1:p.Asp186His
ENST00000637561.1:c.202G>C	ENSP00000490536.1:p.Asp68His
ENST00000637603.1:c.202G>C	ENSP00000489979.1:p.Asp68His
ENST00000637609.1:n.235G>C
ENST00000637636.1:c.202G>C	ENSP00000490112.1:p.Asp68His
ENST00000637638.1:c.202G>C	ENSP00000490774.1:p.Asp68His
ENST00000637718.1:c.7G>C	ENSP00000490133.1:p.Asp3His
ENST00000637790.2:c.202G>C MANE Select	ENSP00000490272.1:p.Asp68His
ENST00000637792.1:c.250G>C	ENSP00000490423.1:p.Asp84His
ENST00000637805.1:c.*38G>C	ENSP00000489884.1:n.*38G>C
ENST00000637872.1:c.7G>C	ENSP00000490432.1:p.Asp3His
ENST00000637898.1:n.232G>C
ENST00000637922.1:c.7G>C	ENSP00000490071.1:p.Asp3His
ENST00000637991.1:c.250G>C	ENSP00000489901.1:p.Asp84His
ENST00000638069.1:n.258G>C
ENST00000262097.10:c.202G>C	ENSP00000262097.6:p.Asp68His
ENST00000314146.10:c.271G>C	ENSP00000326970.10:p.Asp91His
ENST00000381733.8:c.250G>C	ENSP00000371152.4:p.Asp84His
ENST00000518087.6:n.250G>C
ENST00000519468.5:n.208G>C
ENST00000519545.5:n.216G>C
ENST00000520051.1:n.788G>C
ENST00000520781.5:c.202G>C	ENSP00000427751.1:p.Asp68His
ENST00000523593.5:n.157-4016G>C
NM_001127505.1:c.271G>C	NP_001120977.1:p.Asp91His
NM_001127505.2:c.271G>C	NP_001120977.1:p.Asp91His
NM_004315.4:c.250G>C	NP_004306.3:p.Asp84His
NM_004315.5:c.250G>C	NP_004306.3:p.Asp84His
NM_177924.3:c.202G>C	NP_808592.2:p.Asp68His
NM_177924.4:c.202G>C	NP_808592.2:p.Asp68His
XM_005273504.2:c.136G>C	XP_005273561.1:p.Asp46His
NM_001363743.1:c.7G>C	NP_001350672.1:p.Asp3His
XM_005273504.3:c.136G>C	XP_005273561.1:p.Asp46His
NM_177924.5:c.202G>C MANE Select	NP_808592.2:p.Asp68His
NM_001127505.3:c.271G>C	NP_001120977.1:p.Asp91His
NM_001363743.2:c.7G>C	NP_001350672.1:p.Asp3His
NM_004315.6:c.250G>C	NP_004306.3:p.Asp84His