Canonical Allele Identifier: CA370427244

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 1402208
• ClinVar RCV Id: RCV001906317
• dbSNP Id: rs1371933986
• gnomAD v4: 8-18059346-G-C
• MyVariant Identifiers: chr8:g.17916855G>C (hg19) ; chr8:g.18059346G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18059346G>C , CM000670.2:g.18059346G>C	GRCh38
NC_000008.10:g.17916855G>C , CM000670.1:g.17916855G>C	GRCh37
NC_000008.9:g.17961135G>C	NCBI36
NG_008985.1:g.30653C>G
NG_008985.2:g.30653C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.1084C>G	ENSP00000371152.4:p.Gln362Glu
ENST00000518746.2:n.2722C>G
ENST00000520781.6:c.961C>G	ENSP00000427751.1:p.Gln321Glu
ENST00000635756.1:c.449C>G
ENST00000635944.1:c.*872C>G	ENSP00000490195.1:n.*872C>G
ENST00000635998.1:c.1036C>G	ENSP00000490506.1:p.Gln346Glu
ENST00000636009.1:c.893C>G	ENSP00000489988.1:n.893C>G
ENST00000636033.1:c.*872C>G	ENSP00000489617.1:n.*872C>G
ENST00000636050.1:c.*879C>G	ENSP00000490562.1:n.*879C>G
ENST00000636128.1:c.715C>G	ENSP00000489789.1:p.Gln239Glu
ENST00000636160.1:c.*928C>G	ENSP00000489651.1:n.*928C>G
ENST00000636171.1:c.979C>G	ENSP00000489761.1:p.Gln327Glu
ENST00000636455.1:c.965+226C>G	ENSP00000490502.1:n.965+226C>G
ENST00000636494.1:c.*816C>G	ENSP00000490388.1:n.*816C>G
ENST00000636563.1:n.698C>G
ENST00000636577.1:c.976C>G	ENSP00000490027.1:p.Gln326Glu
ENST00000636691.1:c.841C>G	ENSP00000490725.1:p.Gln281Glu
ENST00000636701.1:c.*687C>G	ENSP00000489800.1:n.*687C>G
ENST00000636815.1:c.953C>G
ENST00000636920.1:c.*872C>G	ENSP00000490437.1:n.*872C>G
ENST00000636997.1:c.949C>G	ENSP00000490093.1:p.Gln317Glu
ENST00000637013.1:c.*1404C>G	ENSP00000490596.1:n.*1404C>G
ENST00000637014.1:n.1443C>G
ENST00000637095.1:c.*816C>G	ENSP00000490415.1:n.*816C>G
ENST00000637244.1:c.*1554C>G	ENSP00000490188.1:n.*1554C>G
ENST00000637343.1:n.2473C>G
ENST00000637429.1:c.*1248C>G	ENSP00000490522.1:n.*1248C>G
ENST00000637484.1:c.*998C>G	ENSP00000490837.1:n.*998C>G
ENST00000637528.1:c.973C>G	ENSP00000490801.1:p.Gln325Glu
ENST00000637609.1:n.3757C>G
ENST00000637636.1:c.1030C>G	ENSP00000490112.1:p.Gln344Glu
ENST00000637790.2:c.1036C>G MANE Select	ENSP00000490272.1:p.Gln346Glu
ENST00000637857.1:n.1402C>G
ENST00000637922.1:c.841C>G	ENSP00000490071.1:p.Gln281Glu
ENST00000637991.1:c.1009C>G	ENSP00000489901.1:p.Gln337Glu
ENST00000638028.1:n.1253C>G
ENST00000638069.1:n.1857C>G
ENST00000262097.10:c.1036C>G	ENSP00000262097.6:p.Gln346Glu
ENST00000314146.10:c.1018C>G	ENSP00000326970.10:p.Gln340Glu
ENST00000381733.8:c.1084C>G	ENSP00000371152.4:p.Gln362Glu
ENST00000520781.5:c.961C>G	ENSP00000427751.1:p.Gln321Glu
NM_001127505.1:c.1018C>G	NP_001120977.1:p.Gln340Glu
NM_001127505.2:c.1018C>G	NP_001120977.1:p.Gln340Glu
NM_004315.4:c.1084C>G	NP_004306.3:p.Gln362Glu
NM_004315.5:c.1084C>G	NP_004306.3:p.Gln362Glu
NM_177924.3:c.1036C>G	NP_808592.2:p.Gln346Glu
NM_177924.4:c.1036C>G	NP_808592.2:p.Gln346Glu
XM_005273504.2:c.970C>G	XP_005273561.1:p.Gln324Glu
NM_001363743.1:c.841C>G	NP_001350672.1:p.Gln281Glu
XM_005273504.3:c.970C>G	XP_005273561.1:p.Gln324Glu
NM_177924.5:c.1036C>G MANE Select	NP_808592.2:p.Gln346Glu
NM_001127505.3:c.1018C>G	NP_001120977.1:p.Gln340Glu
NM_001363743.2:c.841C>G	NP_001350672.1:p.Gln281Glu
NM_004315.6:c.1084C>G	NP_004306.3:p.Gln362Glu