Canonical Allele Identifier: CA370431730

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 812474
• ClinVar RCV Id: RCV001003302
• dbSNP Id: rs1588982421
• MyVariant Identifiers: chr8:g.17922015A>T (hg19) ; chr8:g.18064506A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064506A>T , CM000670.2:g.18064506A>T	GRCh38
NC_000008.10:g.17922015A>T , CM000670.1:g.17922015A>T	GRCh37
NC_000008.9:g.17966295A>T	NCBI36
NG_008985.1:g.25493T>A
NG_008985.2:g.25493T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.456T>A	ENSP00000371152.4:p.Phe152Leu
ENST00000519545.6:n.425T>A
ENST00000520781.6:c.383-1276T>A	ENSP00000427751.1:n.383-1276T>A
ENST00000523593.6:c.*251T>A	ENSP00000490700.1:n.*251T>A
ENST00000523744.2:n.4166T>A
ENST00000635769.1:c.429T>A	ENSP00000490485.1:p.Phe143Leu
ENST00000635944.1:c.*244T>A	ENSP00000490195.1:n.*244T>A
ENST00000635998.1:c.408T>A	ENSP00000490506.1:p.Phe136Leu
ENST00000636009.1:c.315-1276T>A	ENSP00000489988.1:n.315-1276T>A
ENST00000636033.1:c.*244T>A	ENSP00000489617.1:n.*244T>A
ENST00000636050.1:c.*251T>A	ENSP00000490562.1:n.*251T>A
ENST00000636128.1:c.382+2714T>A	ENSP00000489789.1:n.382+2714T>A
ENST00000636160.1:c.*300T>A	ENSP00000489651.1:n.*300T>A
ENST00000636171.1:c.383-32T>A	ENSP00000489761.1:n.383-32T>A
ENST00000636299.1:c.*179T>A	ENSP00000490202.1:n.*179T>A
ENST00000636435.1:n.3180T>A
ENST00000636455.1:c.456T>A	ENSP00000490502.1:p.Phe152Leu
ENST00000636494.1:c.*188T>A	ENSP00000490388.1:n.*188T>A
ENST00000636563.1:n.70T>A
ENST00000636577.1:c.383-35T>A	ENSP00000490027.1:n.383-35T>A
ENST00000636691.1:c.213T>A	ENSP00000490725.1:p.Phe71Leu
ENST00000636701.1:c.*59T>A	ENSP00000489800.1:n.*59T>A
ENST00000636815.1:c.325T>A
ENST00000636823.1:c.213T>A	ENSP00000490798.1:p.Phe71Leu
ENST00000636828.1:n.3272T>A
ENST00000636920.1:c.*244T>A	ENSP00000490437.1:n.*244T>A
ENST00000636997.1:c.321T>A	ENSP00000490093.1:p.Phe107Leu
ENST00000637013.1:c.*620T>A	ENSP00000490596.1:n.*620T>A
ENST00000637095.1:c.*188T>A	ENSP00000490415.1:n.*188T>A
ENST00000637244.1:c.*926T>A	ENSP00000490188.1:n.*926T>A
ENST00000637343.1:n.619T>A
ENST00000637429.1:c.*620T>A	ENSP00000490522.1:n.*620T>A
ENST00000637484.1:c.*420-1276T>A	ENSP00000490837.1:n.*420-1276T>A
ENST00000637528.1:c.383-38T>A	ENSP00000490801.1:n.383-38T>A
ENST00000637603.1:c.378T>A	ENSP00000489979.1:p.Phe126Leu
ENST00000637609.1:n.3129T>A
ENST00000637636.1:c.402T>A	ENSP00000490112.1:p.Phe134Leu
ENST00000637638.1:c.408T>A	ENSP00000490774.1:p.Phe136Leu
ENST00000637718.1:c.213T>A	ENSP00000490133.1:p.Phe71Leu
ENST00000637790.2:c.408T>A MANE Select	ENSP00000490272.1:p.Phe136Leu
ENST00000637857.1:n.105-2083T>A
ENST00000637922.1:c.213T>A	ENSP00000490071.1:p.Phe71Leu
ENST00000637991.1:c.431-1276T>A	ENSP00000489901.1:n.431-1276T>A
ENST00000638069.1:n.464T>A
ENST00000262097.10:c.408T>A	ENSP00000262097.6:p.Phe136Leu
ENST00000314146.10:c.390T>A	ENSP00000326970.10:p.Phe130Leu
ENST00000381733.8:c.456T>A	ENSP00000371152.4:p.Phe152Leu
ENST00000519468.5:n.389-2139T>A
ENST00000519545.5:n.422T>A
ENST00000520781.5:c.383-1276T>A	ENSP00000427751.1:n.383-1276T>A
ENST00000523593.5:n.261T>A
ENST00000523744.1:n.411T>A
NM_001127505.1:c.390T>A	NP_001120977.1:p.Phe130Leu
NM_001127505.2:c.390T>A	NP_001120977.1:p.Phe130Leu
NM_004315.4:c.456T>A	NP_004306.3:p.Phe152Leu
NM_004315.5:c.456T>A	NP_004306.3:p.Phe152Leu
NM_177924.3:c.408T>A	NP_808592.2:p.Phe136Leu
NM_177924.4:c.408T>A	NP_808592.2:p.Phe136Leu
XM_005273504.2:c.342T>A	XP_005273561.1:p.Phe114Leu
NM_001363743.1:c.213T>A	NP_001350672.1:p.Phe71Leu
XM_005273504.3:c.342T>A	XP_005273561.1:p.Phe114Leu
NM_177924.5:c.408T>A MANE Select	NP_808592.2:p.Phe136Leu
NM_001127505.3:c.390T>A	NP_001120977.1:p.Phe130Leu
NM_001363743.2:c.213T>A	NP_001350672.1:p.Phe71Leu
NM_004315.6:c.456T>A	NP_004306.3:p.Phe152Leu