Canonical Allele Identifier: CA4650862

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 375548
• ClinVar RCV Id: RCV000416939 ; RCV001861470 ; RCV004551416 ; RCV002502451
• dbSNP Id: rs371666412
• ExAC: 8:17922013 T / C
• gnomAD v2: 8-17922013-T-C
• gnomAD v3: 8-18064504-T-C
• gnomAD v4: 8-18064504-T-C
• MyVariant Identifiers: chr8:g.17922013T>C (hg19) ; chr8:g.17922013_17922014delinsCA (hg19) ; chr8:g.18064504T>C (hg38) ; chr8:g.18064504_18064505delinsCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064504T>C , CM000670.2:g.18064504T>C	GRCh38
NC_000008.10:g.17922013T>C , CM000670.1:g.17922013T>C	GRCh37
NC_000008.9:g.17966293T>C	NCBI36
NG_008985.1:g.25495A>G
NG_008985.2:g.25495A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.458A>G	ENSP00000371152.4:p.Tyr153Cys
ENST00000519545.6:n.427A>G
ENST00000520781.6:c.383-1274A>G	ENSP00000427751.1:n.383-1274A>G
ENST00000523593.6:c.*253A>G	ENSP00000490700.1:n.*253A>G
ENST00000523744.2:n.4168A>G
ENST00000635769.1:c.431A>G	ENSP00000490485.1:p.Tyr144Cys
ENST00000635944.1:c.*246A>G	ENSP00000490195.1:n.*246A>G
ENST00000635998.1:c.410A>G	ENSP00000490506.1:p.Tyr137Cys
ENST00000636009.1:c.315-1274A>G	ENSP00000489988.1:n.315-1274A>G
ENST00000636033.1:c.*246A>G	ENSP00000489617.1:n.*246A>G
ENST00000636050.1:c.*253A>G	ENSP00000490562.1:n.*253A>G
ENST00000636128.1:c.382+2716A>G	ENSP00000489789.1:n.382+2716A>G
ENST00000636160.1:c.*302A>G	ENSP00000489651.1:n.*302A>G
ENST00000636171.1:c.383-30A>G	ENSP00000489761.1:n.383-30A>G
ENST00000636299.1:c.*181A>G	ENSP00000490202.1:n.*181A>G
ENST00000636435.1:n.3182A>G
ENST00000636455.1:c.458A>G	ENSP00000490502.1:p.Tyr153Cys
ENST00000636494.1:c.*190A>G	ENSP00000490388.1:n.*190A>G
ENST00000636563.1:n.72A>G
ENST00000636577.1:c.383-33A>G	ENSP00000490027.1:n.383-33A>G
ENST00000636691.1:c.215A>G	ENSP00000490725.1:p.Tyr72Cys
ENST00000636701.1:c.*61A>G	ENSP00000489800.1:n.*61A>G
ENST00000636815.1:c.327A>G
ENST00000636823.1:c.215A>G	ENSP00000490798.1:p.Tyr72Cys
ENST00000636828.1:n.3274A>G
ENST00000636920.1:c.*246A>G	ENSP00000490437.1:n.*246A>G
ENST00000636997.1:c.323A>G	ENSP00000490093.1:p.Tyr108Cys
ENST00000637013.1:c.*622A>G	ENSP00000490596.1:n.*622A>G
ENST00000637095.1:c.*190A>G	ENSP00000490415.1:n.*190A>G
ENST00000637244.1:c.*928A>G	ENSP00000490188.1:n.*928A>G
ENST00000637343.1:n.621A>G
ENST00000637429.1:c.*622A>G	ENSP00000490522.1:n.*622A>G
ENST00000637484.1:c.*420-1274A>G	ENSP00000490837.1:n.*420-1274A>G
ENST00000637528.1:c.383-36A>G	ENSP00000490801.1:n.383-36A>G
ENST00000637603.1:c.380A>G	ENSP00000489979.1:p.Tyr127Cys
ENST00000637609.1:n.3131A>G
ENST00000637636.1:c.404A>G	ENSP00000490112.1:p.Tyr135Cys
ENST00000637638.1:c.410A>G	ENSP00000490774.1:p.Tyr137Cys
ENST00000637718.1:c.215A>G	ENSP00000490133.1:p.Tyr72Cys
ENST00000637790.2:c.410A>G MANE Select	ENSP00000490272.1:p.Tyr137Cys
ENST00000637857.1:n.105-2081A>G
ENST00000637922.1:c.215A>G	ENSP00000490071.1:p.Tyr72Cys
ENST00000637991.1:c.431-1274A>G	ENSP00000489901.1:n.431-1274A>G
ENST00000638069.1:n.466A>G
ENST00000262097.10:c.410A>G	ENSP00000262097.6:p.Tyr137Cys
ENST00000314146.10:c.392A>G	ENSP00000326970.10:p.Tyr131Cys
ENST00000381733.8:c.458A>G	ENSP00000371152.4:p.Tyr153Cys
ENST00000519468.5:n.389-2137A>G
ENST00000519545.5:n.424A>G
ENST00000520781.5:c.383-1274A>G	ENSP00000427751.1:n.383-1274A>G
ENST00000523593.5:n.263A>G
ENST00000523744.1:n.413A>G
NM_001127505.1:c.392A>G	NP_001120977.1:p.Tyr131Cys
NM_001127505.2:c.392A>G	NP_001120977.1:p.Tyr131Cys
NM_004315.4:c.458A>G	NP_004306.3:p.Tyr153Cys
NM_004315.5:c.458A>G	NP_004306.3:p.Tyr153Cys
NM_177924.3:c.410A>G	NP_808592.2:p.Tyr137Cys
NM_177924.4:c.410A>G	NP_808592.2:p.Tyr137Cys
XM_005273504.2:c.344A>G	XP_005273561.1:p.Tyr115Cys
NM_001363743.1:c.215A>G	NP_001350672.1:p.Tyr72Cys
XM_005273504.3:c.344A>G	XP_005273561.1:p.Tyr115Cys
NM_177924.5:c.410A>G MANE Select	NP_808592.2:p.Tyr137Cys
NM_001127505.3:c.392A>G	NP_001120977.1:p.Tyr131Cys
NM_001363743.2:c.215A>G	NP_001350672.1:p.Tyr72Cys
NM_004315.6:c.458A>G	NP_004306.3:p.Tyr153Cys