Canonical Allele Identifier: CA370431804

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17922028G>T (hg19) ; chr8:g.18064519G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064519G>T , CM000670.2:g.18064519G>T	GRCh38
NC_000008.10:g.17922028G>T , CM000670.1:g.17922028G>T	GRCh37
NC_000008.9:g.17966308G>T	NCBI36
NG_008985.1:g.25480C>A
NG_008985.2:g.25480C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.443C>A	ENSP00000371152.4:p.Ser148Ter
ENST00000519545.6:n.412C>A
ENST00000520781.6:c.383-1289C>A	ENSP00000427751.1:n.383-1289C>A
ENST00000523593.6:c.*238C>A	ENSP00000490700.1:n.*238C>A
ENST00000523744.2:n.4153C>A
ENST00000635769.1:c.416C>A	ENSP00000490485.1:p.Ser139Ter
ENST00000635944.1:c.*231C>A	ENSP00000490195.1:n.*231C>A
ENST00000635998.1:c.395C>A	ENSP00000490506.1:p.Ser132Ter
ENST00000636009.1:c.315-1289C>A	ENSP00000489988.1:n.315-1289C>A
ENST00000636033.1:c.*231C>A	ENSP00000489617.1:n.*231C>A
ENST00000636050.1:c.*238C>A	ENSP00000490562.1:n.*238C>A
ENST00000636128.1:c.382+2701C>A	ENSP00000489789.1:n.382+2701C>A
ENST00000636160.1:c.*287C>A	ENSP00000489651.1:n.*287C>A
ENST00000636171.1:c.383-45C>A	ENSP00000489761.1:n.383-45C>A
ENST00000636299.1:c.*166C>A	ENSP00000490202.1:n.*166C>A
ENST00000636435.1:n.3167C>A
ENST00000636455.1:c.443C>A	ENSP00000490502.1:p.Ser148Ter
ENST00000636494.1:c.*175C>A	ENSP00000490388.1:n.*175C>A
ENST00000636563.1:n.57C>A
ENST00000636577.1:c.383-48C>A	ENSP00000490027.1:n.383-48C>A
ENST00000636691.1:c.200C>A	ENSP00000490725.1:p.Ser67Ter
ENST00000636701.1:c.*46C>A	ENSP00000489800.1:n.*46C>A
ENST00000636815.1:c.312C>A
ENST00000636823.1:c.200C>A	ENSP00000490798.1:p.Ser67Ter
ENST00000636828.1:n.3259C>A
ENST00000636920.1:c.*231C>A	ENSP00000490437.1:n.*231C>A
ENST00000636997.1:c.308C>A	ENSP00000490093.1:p.Ser103Ter
ENST00000637013.1:c.*607C>A	ENSP00000490596.1:n.*607C>A
ENST00000637095.1:c.*175C>A	ENSP00000490415.1:n.*175C>A
ENST00000637244.1:c.*913C>A	ENSP00000490188.1:n.*913C>A
ENST00000637343.1:n.606C>A
ENST00000637429.1:c.*607C>A	ENSP00000490522.1:n.*607C>A
ENST00000637484.1:c.*420-1289C>A	ENSP00000490837.1:n.*420-1289C>A
ENST00000637528.1:c.383-51C>A	ENSP00000490801.1:n.383-51C>A
ENST00000637603.1:c.365C>A	ENSP00000489979.1:p.Ser122Ter
ENST00000637609.1:n.3116C>A
ENST00000637636.1:c.389C>A	ENSP00000490112.1:p.Ser130Ter
ENST00000637638.1:c.395C>A	ENSP00000490774.1:p.Ser132Ter
ENST00000637718.1:c.200C>A	ENSP00000490133.1:p.Ser67Ter
ENST00000637790.2:c.395C>A MANE Select	ENSP00000490272.1:p.Ser132Ter
ENST00000637857.1:n.105-2096C>A
ENST00000637922.1:c.200C>A	ENSP00000490071.1:p.Ser67Ter
ENST00000637991.1:c.431-1289C>A	ENSP00000489901.1:n.431-1289C>A
ENST00000638069.1:n.451C>A
ENST00000262097.10:c.395C>A	ENSP00000262097.6:p.Ser132Ter
ENST00000314146.10:c.377C>A	ENSP00000326970.10:p.Ser126Ter
ENST00000381733.8:c.443C>A	ENSP00000371152.4:p.Ser148Ter
ENST00000519468.5:n.389-2152C>A
ENST00000519545.5:n.409C>A
ENST00000520781.5:c.383-1289C>A	ENSP00000427751.1:n.383-1289C>A
ENST00000523593.5:n.248C>A
ENST00000523744.1:n.398C>A
NM_001127505.1:c.377C>A	NP_001120977.1:p.Ser126Ter
NM_001127505.2:c.377C>A	NP_001120977.1:p.Ser126Ter
NM_004315.4:c.443C>A	NP_004306.3:p.Ser148Ter
NM_004315.5:c.443C>A	NP_004306.3:p.Ser148Ter
NM_177924.3:c.395C>A	NP_808592.2:p.Ser132Ter
NM_177924.4:c.395C>A	NP_808592.2:p.Ser132Ter
XM_005273504.2:c.329C>A	XP_005273561.1:p.Ser110Ter
NM_001363743.1:c.200C>A	NP_001350672.1:p.Ser67Ter
XM_005273504.3:c.329C>A	XP_005273561.1:p.Ser110Ter
NM_177924.5:c.395C>A MANE Select	NP_808592.2:p.Ser132Ter
NM_001127505.3:c.377C>A	NP_001120977.1:p.Ser126Ter
NM_001363743.2:c.200C>A	NP_001350672.1:p.Ser67Ter
NM_004315.6:c.443C>A	NP_004306.3:p.Ser148Ter