Canonical Allele Identifier: CA370429259

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 1917303
• ClinVar RCV Id: RCV002598162
• dbSNP Id: rs1490892722
• gnomAD v3: 8-18061384-T-C
• gnomAD v4: 8-18061384-T-C
• MyVariant Identifiers: chr8:g.17918893T>C (hg19) ; chr8:g.18061384T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061384T>C , CM000670.2:g.18061384T>C	GRCh38
NC_000008.10:g.17918893T>C , CM000670.1:g.17918893T>C	GRCh37
NC_000008.9:g.17963173T>C	NCBI36
NG_008985.1:g.28615A>G
NG_008985.2:g.28615A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.826A>G	ENSP00000371152.4:p.Ser276Gly
ENST00000518746.2:n.2464A>G
ENST00000520781.6:c.703A>G	ENSP00000427751.1:p.Ser235Gly
ENST00000521542.2:n.86A>G
ENST00000635756.1:c.191A>G
ENST00000635944.1:c.*614A>G	ENSP00000490195.1:n.*614A>G
ENST00000635998.1:c.778A>G	ENSP00000490506.1:p.Ser260Gly
ENST00000636009.1:c.635A>G	ENSP00000489988.1:n.635A>G
ENST00000636033.1:c.*614A>G	ENSP00000489617.1:n.*614A>G
ENST00000636050.1:c.*621A>G	ENSP00000490562.1:n.*621A>G
ENST00000636128.1:c.457A>G	ENSP00000489789.1:p.Ser153Gly
ENST00000636160.1:c.*670A>G	ENSP00000489651.1:n.*670A>G
ENST00000636171.1:c.721A>G	ENSP00000489761.1:p.Ser241Gly
ENST00000636455.1:c.826A>G	ENSP00000490502.1:p.Ser276Gly
ENST00000636494.1:c.*558A>G	ENSP00000490388.1:n.*558A>G
ENST00000636563.1:n.440A>G
ENST00000636577.1:c.718A>G	ENSP00000490027.1:p.Ser240Gly
ENST00000636691.1:c.583A>G	ENSP00000490725.1:p.Ser195Gly
ENST00000636701.1:c.*429A>G	ENSP00000489800.1:n.*429A>G
ENST00000636815.1:c.695A>G
ENST00000636920.1:c.*614A>G	ENSP00000490437.1:n.*614A>G
ENST00000636997.1:c.691A>G	ENSP00000490093.1:p.Ser231Gly
ENST00000637013.1:c.*1146A>G	ENSP00000490596.1:n.*1146A>G
ENST00000637014.1:n.1185A>G
ENST00000637095.1:c.*558A>G	ENSP00000490415.1:n.*558A>G
ENST00000637244.1:c.*1296A>G	ENSP00000490188.1:n.*1296A>G
ENST00000637343.1:n.2215A>G
ENST00000637429.1:c.*990A>G	ENSP00000490522.1:n.*990A>G
ENST00000637484.1:c.*740A>G	ENSP00000490837.1:n.*740A>G
ENST00000637528.1:c.715A>G	ENSP00000490801.1:p.Ser239Gly
ENST00000637609.1:n.3499A>G
ENST00000637636.1:c.772A>G	ENSP00000490112.1:p.Ser258Gly
ENST00000637790.2:c.778A>G MANE Select	ENSP00000490272.1:p.Ser260Gly
ENST00000637857.1:n.1144A>G
ENST00000637922.1:c.583A>G	ENSP00000490071.1:p.Ser195Gly
ENST00000637991.1:c.751A>G	ENSP00000489901.1:p.Ser251Gly
ENST00000638028.1:n.995A>G
ENST00000638069.1:n.1599A>G
ENST00000262097.10:c.778A>G	ENSP00000262097.6:p.Ser260Gly
ENST00000314146.10:c.760A>G	ENSP00000326970.10:p.Ser254Gly
ENST00000381733.8:c.826A>G	ENSP00000371152.4:p.Ser276Gly
ENST00000519468.5:n.607A>G
ENST00000520781.5:c.703A>G	ENSP00000427751.1:p.Ser235Gly
ENST00000521542.1:n.491A>G
NM_001127505.1:c.760A>G	NP_001120977.1:p.Ser254Gly
NM_001127505.2:c.760A>G	NP_001120977.1:p.Ser254Gly
NM_004315.4:c.826A>G	NP_004306.3:p.Ser276Gly
NM_004315.5:c.826A>G	NP_004306.3:p.Ser276Gly
NM_177924.3:c.778A>G	NP_808592.2:p.Ser260Gly
NM_177924.4:c.778A>G	NP_808592.2:p.Ser260Gly
XM_005273504.2:c.712A>G	XP_005273561.1:p.Ser238Gly
NM_001363743.1:c.583A>G	NP_001350672.1:p.Ser195Gly
XM_005273504.3:c.712A>G	XP_005273561.1:p.Ser238Gly
NM_177924.5:c.778A>G MANE Select	NP_808592.2:p.Ser260Gly
NM_001127505.3:c.760A>G	NP_001120977.1:p.Ser254Gly
NM_001363743.2:c.583A>G	NP_001350672.1:p.Ser195Gly
NM_004315.6:c.826A>G	NP_004306.3:p.Ser276Gly