Canonical Allele Identifier: CA4650852

Gene: ASAH1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064450C>T , CM000670.2:g.18064450C>T	GRCh38
NC_000008.10:g.17921959C>T , CM000670.1:g.17921959C>T	GRCh37
NC_000008.9:g.17966239C>T	NCBI36
NG_008985.1:g.25549G>A
NG_008985.2:g.25549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.505+7G>A	ENSP00000371152.4:n.505+7G>A
ENST00000519545.6:n.474+7G>A
ENST00000520781.6:c.383-1220G>A	ENSP00000427751.1:n.383-1220G>A
ENST00000523593.6:c.*300+7G>A	ENSP00000490700.1:n.*300+7G>A
ENST00000523744.2:n.4222G>A
ENST00000635769.1:c.478+7G>A	ENSP00000490485.1:n.478+7G>A
ENST00000635944.1:c.*293+7G>A	ENSP00000490195.1:n.*293+7G>A
ENST00000635998.1:c.457+7G>A	ENSP00000490506.1:n.457+7G>A
ENST00000636009.1:c.315-1220G>A	ENSP00000489988.1:n.315-1220G>A
ENST00000636033.1:c.*293+7G>A	ENSP00000489617.1:n.*293+7G>A
ENST00000636050.1:c.*300+7G>A	ENSP00000490562.1:n.*300+7G>A
ENST00000636128.1:c.382+2770G>A	ENSP00000489789.1:n.382+2770G>A
ENST00000636160.1:c.*349+7G>A	ENSP00000489651.1:n.*349+7G>A
ENST00000636171.1:c.400+7G>A	ENSP00000489761.1:n.400+7G>A
ENST00000636299.1:c.*228+7G>A	ENSP00000490202.1:n.*228+7G>A
ENST00000636435.1:n.3236G>A
ENST00000636455.1:c.505+7G>A	ENSP00000490502.1:n.505+7G>A
ENST00000636494.1:c.*237+7G>A	ENSP00000490388.1:n.*237+7G>A
ENST00000636563.1:n.119+7G>A
ENST00000636577.1:c.397+7G>A	ENSP00000490027.1:n.397+7G>A
ENST00000636691.1:c.262+7G>A	ENSP00000490725.1:n.262+7G>A
ENST00000636701.1:c.*108+7G>A	ENSP00000489800.1:n.*108+7G>A
ENST00000636815.1:c.374+7G>A
ENST00000636823.1:c.262+7G>A	ENSP00000490798.1:n.262+7G>A
ENST00000636828.1:n.3328G>A
ENST00000636920.1:c.*293+7G>A	ENSP00000490437.1:n.*293+7G>A
ENST00000636997.1:c.370+7G>A	ENSP00000490093.1:n.370+7G>A
ENST00000637013.1:c.*669+7G>A	ENSP00000490596.1:n.*669+7G>A
ENST00000637095.1:c.*237+7G>A	ENSP00000490415.1:n.*237+7G>A
ENST00000637244.1:c.*975+7G>A	ENSP00000490188.1:n.*975+7G>A
ENST00000637343.1:n.675G>A
ENST00000637429.1:c.*669+7G>A	ENSP00000490522.1:n.*669+7G>A
ENST00000637484.1:c.*420-1220G>A	ENSP00000490837.1:n.*420-1220G>A
ENST00000637528.1:c.394+7G>A	ENSP00000490801.1:n.394+7G>A
ENST00000637603.1:c.427+7G>A	ENSP00000489979.1:n.427+7G>A
ENST00000637609.1:n.3178+7G>A
ENST00000637636.1:c.451+7G>A	ENSP00000490112.1:n.451+7G>A
ENST00000637638.1:c.464G>A	ENSP00000490774.1:p.Cys155Tyr
ENST00000637718.1:c.262+7G>A	ENSP00000490133.1:n.262+7G>A
ENST00000637790.2:c.457+7G>A MANE Select	ENSP00000490272.1:n.457+7G>A
ENST00000637857.1:n.105-2027G>A
ENST00000637922.1:c.262+7G>A	ENSP00000490071.1:n.262+7G>A
ENST00000637991.1:c.431-1220G>A	ENSP00000489901.1:n.431-1220G>A
ENST00000638069.1:n.513+7G>A
ENST00000262097.10:c.457+7G>A	ENSP00000262097.6:n.457+7G>A
ENST00000314146.10:c.439+7G>A	ENSP00000326970.10:n.439+7G>A
ENST00000381733.8:c.505+7G>A	ENSP00000371152.4:n.505+7G>A
ENST00000519468.5:n.389-2083G>A
ENST00000519545.5:n.471+7G>A
ENST00000520781.5:c.383-1220G>A	ENSP00000427751.1:n.383-1220G>A
ENST00000523593.5:n.310+7G>A
ENST00000523744.1:n.460+7G>A
NM_001127505.1:c.439+7G>A	NP_001120977.1:n.439+7G>A
NM_001127505.2:c.439+7G>A	NP_001120977.1:n.439+7G>A
NM_004315.4:c.505+7G>A	NP_004306.3:n.505+7G>A
NM_004315.5:c.505+7G>A	NP_004306.3:n.505+7G>A
NM_177924.3:c.457+7G>A	NP_808592.2:n.457+7G>A
NM_177924.4:c.457+7G>A	NP_808592.2:n.457+7G>A
XM_005273504.2:c.391+7G>A	XP_005273561.1:n.391+7G>A
NM_001363743.1:c.262+7G>A	NP_001350672.1:n.262+7G>A
XM_005273504.3:c.391+7G>A	XP_005273561.1:n.391+7G>A
NM_177924.5:c.457+7G>A MANE Select	NP_808592.2:n.457+7G>A
NM_001127505.3:c.439+7G>A	NP_001120977.1:n.439+7G>A
NM_001363743.2:c.262+7G>A	NP_001350672.1:n.262+7G>A
NM_004315.6:c.505+7G>A	NP_004306.3:n.505+7G>A