Canonical Allele Identifier: CA370431728

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 1414058
• ClinVar RCV Id: RCV001945179
• dbSNP Id: rs1799848546
• MyVariant Identifiers: chr8:g.17922014A>T (hg19) ; chr8:g.18064505A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064505A>T , CM000670.2:g.18064505A>T	GRCh38
NC_000008.10:g.17922014A>T , CM000670.1:g.17922014A>T	GRCh37
NC_000008.9:g.17966294A>T	NCBI36
NG_008985.1:g.25494T>A
NG_008985.2:g.25494T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.457T>A	ENSP00000371152.4:p.Tyr153Asn
ENST00000519545.6:n.426T>A
ENST00000520781.6:c.383-1275T>A	ENSP00000427751.1:n.383-1275T>A
ENST00000523593.6:c.*252T>A	ENSP00000490700.1:n.*252T>A
ENST00000523744.2:n.4167T>A
ENST00000635769.1:c.430T>A	ENSP00000490485.1:p.Tyr144Asn
ENST00000635944.1:c.*245T>A	ENSP00000490195.1:n.*245T>A
ENST00000635998.1:c.409T>A	ENSP00000490506.1:p.Tyr137Asn
ENST00000636009.1:c.315-1275T>A	ENSP00000489988.1:n.315-1275T>A
ENST00000636033.1:c.*245T>A	ENSP00000489617.1:n.*245T>A
ENST00000636050.1:c.*252T>A	ENSP00000490562.1:n.*252T>A
ENST00000636128.1:c.382+2715T>A	ENSP00000489789.1:n.382+2715T>A
ENST00000636160.1:c.*301T>A	ENSP00000489651.1:n.*301T>A
ENST00000636171.1:c.383-31T>A	ENSP00000489761.1:n.383-31T>A
ENST00000636299.1:c.*180T>A	ENSP00000490202.1:n.*180T>A
ENST00000636435.1:n.3181T>A
ENST00000636455.1:c.457T>A	ENSP00000490502.1:p.Tyr153Asn
ENST00000636494.1:c.*189T>A	ENSP00000490388.1:n.*189T>A
ENST00000636563.1:n.71T>A
ENST00000636577.1:c.383-34T>A	ENSP00000490027.1:n.383-34T>A
ENST00000636691.1:c.214T>A	ENSP00000490725.1:p.Tyr72Asn
ENST00000636701.1:c.*60T>A	ENSP00000489800.1:n.*60T>A
ENST00000636815.1:c.326T>A
ENST00000636823.1:c.214T>A	ENSP00000490798.1:p.Tyr72Asn
ENST00000636828.1:n.3273T>A
ENST00000636920.1:c.*245T>A	ENSP00000490437.1:n.*245T>A
ENST00000636997.1:c.322T>A	ENSP00000490093.1:p.Tyr108Asn
ENST00000637013.1:c.*621T>A	ENSP00000490596.1:n.*621T>A
ENST00000637095.1:c.*189T>A	ENSP00000490415.1:n.*189T>A
ENST00000637244.1:c.*927T>A	ENSP00000490188.1:n.*927T>A
ENST00000637343.1:n.620T>A
ENST00000637429.1:c.*621T>A	ENSP00000490522.1:n.*621T>A
ENST00000637484.1:c.*420-1275T>A	ENSP00000490837.1:n.*420-1275T>A
ENST00000637528.1:c.383-37T>A	ENSP00000490801.1:n.383-37T>A
ENST00000637603.1:c.379T>A	ENSP00000489979.1:p.Tyr127Asn
ENST00000637609.1:n.3130T>A
ENST00000637636.1:c.403T>A	ENSP00000490112.1:p.Tyr135Asn
ENST00000637638.1:c.409T>A	ENSP00000490774.1:p.Tyr137Asn
ENST00000637718.1:c.214T>A	ENSP00000490133.1:p.Tyr72Asn
ENST00000637790.2:c.409T>A MANE Select	ENSP00000490272.1:p.Tyr137Asn
ENST00000637857.1:n.105-2082T>A
ENST00000637922.1:c.214T>A	ENSP00000490071.1:p.Tyr72Asn
ENST00000637991.1:c.431-1275T>A	ENSP00000489901.1:n.431-1275T>A
ENST00000638069.1:n.465T>A
ENST00000262097.10:c.409T>A	ENSP00000262097.6:p.Tyr137Asn
ENST00000314146.10:c.391T>A	ENSP00000326970.10:p.Tyr131Asn
ENST00000381733.8:c.457T>A	ENSP00000371152.4:p.Tyr153Asn
ENST00000519468.5:n.389-2138T>A
ENST00000519545.5:n.423T>A
ENST00000520781.5:c.383-1275T>A	ENSP00000427751.1:n.383-1275T>A
ENST00000523593.5:n.262T>A
ENST00000523744.1:n.412T>A
NM_001127505.1:c.391T>A	NP_001120977.1:p.Tyr131Asn
NM_001127505.2:c.391T>A	NP_001120977.1:p.Tyr131Asn
NM_004315.4:c.457T>A	NP_004306.3:p.Tyr153Asn
NM_004315.5:c.457T>A	NP_004306.3:p.Tyr153Asn
NM_177924.3:c.409T>A	NP_808592.2:p.Tyr137Asn
NM_177924.4:c.409T>A	NP_808592.2:p.Tyr137Asn
XM_005273504.2:c.343T>A	XP_005273561.1:p.Tyr115Asn
NM_001363743.1:c.214T>A	NP_001350672.1:p.Tyr72Asn
XM_005273504.3:c.343T>A	XP_005273561.1:p.Tyr115Asn
NM_177924.5:c.409T>A MANE Select	NP_808592.2:p.Tyr137Asn
NM_001127505.3:c.391T>A	NP_001120977.1:p.Tyr131Asn
NM_001363743.2:c.214T>A	NP_001350672.1:p.Tyr72Asn
NM_004315.6:c.457T>A	NP_004306.3:p.Tyr153Asn