Canonical Allele Identifier: CA370431719

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17922013T>A (hg19) ; chr8:g.18064504T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.458A>T	ENSP00000371152.4:p.Tyr153Phe
ENST00000519545.6:n.427A>T
ENST00000520781.6:c.383-1274A>T	ENSP00000427751.1:n.383-1274A>T
ENST00000523593.6:c.*253A>T	ENSP00000490700.1:n.*253A>T
ENST00000523744.2:n.4168A>T
ENST00000635769.1:c.431A>T	ENSP00000490485.1:p.Tyr144Phe
ENST00000635944.1:c.*246A>T	ENSP00000490195.1:n.*246A>T
ENST00000635998.1:c.410A>T	ENSP00000490506.1:p.Tyr137Phe
ENST00000636009.1:c.315-1274A>T	ENSP00000489988.1:n.315-1274A>T
ENST00000636033.1:c.*246A>T	ENSP00000489617.1:n.*246A>T
ENST00000636050.1:c.*253A>T	ENSP00000490562.1:n.*253A>T
ENST00000636128.1:c.382+2716A>T	ENSP00000489789.1:n.382+2716A>T
ENST00000636160.1:c.*302A>T	ENSP00000489651.1:n.*302A>T
ENST00000636171.1:c.383-30A>T	ENSP00000489761.1:n.383-30A>T
ENST00000636299.1:c.*181A>T	ENSP00000490202.1:n.*181A>T
ENST00000636435.1:n.3182A>T
ENST00000636455.1:c.458A>T	ENSP00000490502.1:p.Tyr153Phe
ENST00000636494.1:c.*190A>T	ENSP00000490388.1:n.*190A>T
ENST00000636563.1:n.72A>T
ENST00000636577.1:c.383-33A>T	ENSP00000490027.1:n.383-33A>T
ENST00000636691.1:c.215A>T	ENSP00000490725.1:p.Tyr72Phe
ENST00000636701.1:c.*61A>T	ENSP00000489800.1:n.*61A>T
ENST00000636815.1:c.327A>T
ENST00000636823.1:c.215A>T	ENSP00000490798.1:p.Tyr72Phe
ENST00000636828.1:n.3274A>T
ENST00000636920.1:c.*246A>T	ENSP00000490437.1:n.*246A>T
ENST00000636997.1:c.323A>T	ENSP00000490093.1:p.Tyr108Phe
ENST00000637013.1:c.*622A>T	ENSP00000490596.1:n.*622A>T
ENST00000637095.1:c.*190A>T	ENSP00000490415.1:n.*190A>T
ENST00000637244.1:c.*928A>T	ENSP00000490188.1:n.*928A>T
ENST00000637343.1:n.621A>T
ENST00000637429.1:c.*622A>T	ENSP00000490522.1:n.*622A>T
ENST00000637484.1:c.*420-1274A>T	ENSP00000490837.1:n.*420-1274A>T
ENST00000637528.1:c.383-36A>T	ENSP00000490801.1:n.383-36A>T
ENST00000637603.1:c.380A>T	ENSP00000489979.1:p.Tyr127Phe
ENST00000637609.1:n.3131A>T
ENST00000637636.1:c.404A>T	ENSP00000490112.1:p.Tyr135Phe
ENST00000637638.1:c.410A>T	ENSP00000490774.1:p.Tyr137Phe
ENST00000637718.1:c.215A>T	ENSP00000490133.1:p.Tyr72Phe
ENST00000637790.2:c.410A>T MANE Select	ENSP00000490272.1:p.Tyr137Phe
ENST00000637857.1:n.105-2081A>T
ENST00000637922.1:c.215A>T	ENSP00000490071.1:p.Tyr72Phe
ENST00000637991.1:c.431-1274A>T	ENSP00000489901.1:n.431-1274A>T
ENST00000638069.1:n.466A>T
ENST00000262097.10:c.410A>T	ENSP00000262097.6:p.Tyr137Phe
ENST00000314146.10:c.392A>T	ENSP00000326970.10:p.Tyr131Phe
ENST00000381733.8:c.458A>T	ENSP00000371152.4:p.Tyr153Phe
ENST00000519468.5:n.389-2137A>T
ENST00000519545.5:n.424A>T
ENST00000520781.5:c.383-1274A>T	ENSP00000427751.1:n.383-1274A>T
ENST00000523593.5:n.263A>T
ENST00000523744.1:n.413A>T
NM_001127505.1:c.392A>T	NP_001120977.1:p.Tyr131Phe
NM_001127505.2:c.392A>T	NP_001120977.1:p.Tyr131Phe
NM_004315.4:c.458A>T	NP_004306.3:p.Tyr153Phe
NM_004315.5:c.458A>T	NP_004306.3:p.Tyr153Phe
NM_177924.3:c.410A>T	NP_808592.2:p.Tyr137Phe
NM_177924.4:c.410A>T	NP_808592.2:p.Tyr137Phe
XM_005273504.2:c.344A>T	XP_005273561.1:p.Tyr115Phe
NM_001363743.1:c.215A>T	NP_001350672.1:p.Tyr72Phe
XM_005273504.3:c.344A>T	XP_005273561.1:p.Tyr115Phe
NM_177924.5:c.410A>T MANE Select	NP_808592.2:p.Tyr137Phe
NM_001127505.3:c.392A>T	NP_001120977.1:p.Tyr131Phe
NM_001363743.2:c.215A>T	NP_001350672.1:p.Tyr72Phe
NM_004315.6:c.458A>T	NP_004306.3:p.Tyr153Phe