Canonical Allele Identifier: CA370431703

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 812496
• ClinVar RCV Id: RCV001003326 ; RCV001860535
• dbSNP Id: rs1588982399
• gnomAD v4: 8-18064502-C-A
• MyVariant Identifiers: chr8:g.17922011C>A (hg19) ; chr8:g.18064502C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064502C>A , CM000670.2:g.18064502C>A	GRCh38
NC_000008.10:g.17922011C>A , CM000670.1:g.17922011C>A	GRCh37
NC_000008.9:g.17966291C>A	NCBI36
NG_008985.1:g.25497G>T
NG_008985.2:g.25497G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.460G>T	ENSP00000371152.4:p.Glu154Ter
ENST00000519545.6:n.429G>T
ENST00000520781.6:c.383-1272G>T	ENSP00000427751.1:n.383-1272G>T
ENST00000523593.6:c.*255G>T	ENSP00000490700.1:n.*255G>T
ENST00000523744.2:n.4170G>T
ENST00000635769.1:c.433G>T	ENSP00000490485.1:p.Glu145Ter
ENST00000635944.1:c.*248G>T	ENSP00000490195.1:n.*248G>T
ENST00000635998.1:c.412G>T	ENSP00000490506.1:p.Glu138Ter
ENST00000636009.1:c.315-1272G>T	ENSP00000489988.1:n.315-1272G>T
ENST00000636033.1:c.*248G>T	ENSP00000489617.1:n.*248G>T
ENST00000636050.1:c.*255G>T	ENSP00000490562.1:n.*255G>T
ENST00000636128.1:c.382+2718G>T	ENSP00000489789.1:n.382+2718G>T
ENST00000636160.1:c.*304G>T	ENSP00000489651.1:n.*304G>T
ENST00000636171.1:c.383-28G>T	ENSP00000489761.1:n.383-28G>T
ENST00000636299.1:c.*183G>T	ENSP00000490202.1:n.*183G>T
ENST00000636435.1:n.3184G>T
ENST00000636455.1:c.460G>T	ENSP00000490502.1:p.Glu154Ter
ENST00000636494.1:c.*192G>T	ENSP00000490388.1:n.*192G>T
ENST00000636563.1:n.74G>T
ENST00000636577.1:c.383-31G>T	ENSP00000490027.1:n.383-31G>T
ENST00000636691.1:c.217G>T	ENSP00000490725.1:p.Glu73Ter
ENST00000636701.1:c.*63G>T	ENSP00000489800.1:n.*63G>T
ENST00000636815.1:c.329G>T
ENST00000636823.1:c.217G>T	ENSP00000490798.1:p.Glu73Ter
ENST00000636828.1:n.3276G>T
ENST00000636920.1:c.*248G>T	ENSP00000490437.1:n.*248G>T
ENST00000636997.1:c.325G>T	ENSP00000490093.1:p.Glu109Ter
ENST00000637013.1:c.*624G>T	ENSP00000490596.1:n.*624G>T
ENST00000637095.1:c.*192G>T	ENSP00000490415.1:n.*192G>T
ENST00000637244.1:c.*930G>T	ENSP00000490188.1:n.*930G>T
ENST00000637343.1:n.623G>T
ENST00000637429.1:c.*624G>T	ENSP00000490522.1:n.*624G>T
ENST00000637484.1:c.*420-1272G>T	ENSP00000490837.1:n.*420-1272G>T
ENST00000637528.1:c.383-34G>T	ENSP00000490801.1:n.383-34G>T
ENST00000637603.1:c.382G>T	ENSP00000489979.1:p.Glu128Ter
ENST00000637609.1:n.3133G>T
ENST00000637636.1:c.406G>T	ENSP00000490112.1:p.Glu136Ter
ENST00000637638.1:c.412G>T	ENSP00000490774.1:p.Glu138Ter
ENST00000637718.1:c.217G>T	ENSP00000490133.1:p.Glu73Ter
ENST00000637790.2:c.412G>T MANE Select	ENSP00000490272.1:p.Glu138Ter
ENST00000637857.1:n.105-2079G>T
ENST00000637922.1:c.217G>T	ENSP00000490071.1:p.Glu73Ter
ENST00000637991.1:c.431-1272G>T	ENSP00000489901.1:n.431-1272G>T
ENST00000638069.1:n.468G>T
ENST00000262097.10:c.412G>T	ENSP00000262097.6:p.Glu138Ter
ENST00000314146.10:c.394G>T	ENSP00000326970.10:p.Glu132Ter
ENST00000381733.8:c.460G>T	ENSP00000371152.4:p.Glu154Ter
ENST00000519468.5:n.389-2135G>T
ENST00000519545.5:n.426G>T
ENST00000520781.5:c.383-1272G>T	ENSP00000427751.1:n.383-1272G>T
ENST00000523593.5:n.265G>T
ENST00000523744.1:n.415G>T
NM_001127505.1:c.394G>T	NP_001120977.1:p.Glu132Ter
NM_001127505.2:c.394G>T	NP_001120977.1:p.Glu132Ter
NM_004315.4:c.460G>T	NP_004306.3:p.Glu154Ter
NM_004315.5:c.460G>T	NP_004306.3:p.Glu154Ter
NM_177924.3:c.412G>T	NP_808592.2:p.Glu138Ter
NM_177924.4:c.412G>T	NP_808592.2:p.Glu138Ter
XM_005273504.2:c.346G>T	XP_005273561.1:p.Glu116Ter
NM_001363743.1:c.217G>T	NP_001350672.1:p.Glu73Ter
XM_005273504.3:c.346G>T	XP_005273561.1:p.Glu116Ter
NM_177924.5:c.412G>T MANE Select	NP_808592.2:p.Glu138Ter
NM_001127505.3:c.394G>T	NP_001120977.1:p.Glu132Ter
NM_001363743.2:c.217G>T	NP_001350672.1:p.Glu73Ter
NM_004315.6:c.460G>T	NP_004306.3:p.Glu154Ter