Canonical Allele Identifier: CA173143529

Gene: ASAH1

Linked Data

• dbSNP Id: rs563804633
• gnomAD v2: 8-17922028-G-A
• gnomAD v3: 8-18064519-G-A
• MyVariant Identifiers: chr8:g.17922028G>A (hg19) ; chr8:g.18064519G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.443C>T	ENSP00000371152.4:p.Ser148Leu
ENST00000519545.6:n.412C>T
ENST00000520781.6:c.383-1289C>T	ENSP00000427751.1:n.383-1289C>T
ENST00000523593.6:c.*238C>T	ENSP00000490700.1:n.*238C>T
ENST00000523744.2:n.4153C>T
ENST00000635769.1:c.416C>T	ENSP00000490485.1:p.Ser139Leu
ENST00000635944.1:c.*231C>T	ENSP00000490195.1:n.*231C>T
ENST00000635998.1:c.395C>T	ENSP00000490506.1:p.Ser132Leu
ENST00000636009.1:c.315-1289C>T	ENSP00000489988.1:n.315-1289C>T
ENST00000636033.1:c.*231C>T	ENSP00000489617.1:n.*231C>T
ENST00000636050.1:c.*238C>T	ENSP00000490562.1:n.*238C>T
ENST00000636128.1:c.382+2701C>T	ENSP00000489789.1:n.382+2701C>T
ENST00000636160.1:c.*287C>T	ENSP00000489651.1:n.*287C>T
ENST00000636171.1:c.383-45C>T	ENSP00000489761.1:n.383-45C>T
ENST00000636299.1:c.*166C>T	ENSP00000490202.1:n.*166C>T
ENST00000636435.1:n.3167C>T
ENST00000636455.1:c.443C>T	ENSP00000490502.1:p.Ser148Leu
ENST00000636494.1:c.*175C>T	ENSP00000490388.1:n.*175C>T
ENST00000636563.1:n.57C>T
ENST00000636577.1:c.383-48C>T	ENSP00000490027.1:n.383-48C>T
ENST00000636691.1:c.200C>T	ENSP00000490725.1:p.Ser67Leu
ENST00000636701.1:c.*46C>T	ENSP00000489800.1:n.*46C>T
ENST00000636815.1:c.312C>T
ENST00000636823.1:c.200C>T	ENSP00000490798.1:p.Ser67Leu
ENST00000636828.1:n.3259C>T
ENST00000636920.1:c.*231C>T	ENSP00000490437.1:n.*231C>T
ENST00000636997.1:c.308C>T	ENSP00000490093.1:p.Ser103Leu
ENST00000637013.1:c.*607C>T	ENSP00000490596.1:n.*607C>T
ENST00000637095.1:c.*175C>T	ENSP00000490415.1:n.*175C>T
ENST00000637244.1:c.*913C>T	ENSP00000490188.1:n.*913C>T
ENST00000637343.1:n.606C>T
ENST00000637429.1:c.*607C>T	ENSP00000490522.1:n.*607C>T
ENST00000637484.1:c.*420-1289C>T	ENSP00000490837.1:n.*420-1289C>T
ENST00000637528.1:c.383-51C>T	ENSP00000490801.1:n.383-51C>T
ENST00000637603.1:c.365C>T	ENSP00000489979.1:p.Ser122Leu
ENST00000637609.1:n.3116C>T
ENST00000637636.1:c.389C>T	ENSP00000490112.1:p.Ser130Leu
ENST00000637638.1:c.395C>T	ENSP00000490774.1:p.Ser132Leu
ENST00000637718.1:c.200C>T	ENSP00000490133.1:p.Ser67Leu
ENST00000637790.2:c.395C>T MANE Select	ENSP00000490272.1:p.Ser132Leu
ENST00000637857.1:n.105-2096C>T
ENST00000637922.1:c.200C>T	ENSP00000490071.1:p.Ser67Leu
ENST00000637991.1:c.431-1289C>T	ENSP00000489901.1:n.431-1289C>T
ENST00000638069.1:n.451C>T
ENST00000262097.10:c.395C>T	ENSP00000262097.6:p.Ser132Leu
ENST00000314146.10:c.377C>T	ENSP00000326970.10:p.Ser126Leu
ENST00000381733.8:c.443C>T	ENSP00000371152.4:p.Ser148Leu
ENST00000519468.5:n.389-2152C>T
ENST00000519545.5:n.409C>T
ENST00000520781.5:c.383-1289C>T	ENSP00000427751.1:n.383-1289C>T
ENST00000523593.5:n.248C>T
ENST00000523744.1:n.398C>T
NM_001127505.1:c.377C>T	NP_001120977.1:p.Ser126Leu
NM_001127505.2:c.377C>T	NP_001120977.1:p.Ser126Leu
NM_004315.4:c.443C>T	NP_004306.3:p.Ser148Leu
NM_004315.5:c.443C>T	NP_004306.3:p.Ser148Leu
NM_177924.3:c.395C>T	NP_808592.2:p.Ser132Leu
NM_177924.4:c.395C>T	NP_808592.2:p.Ser132Leu
XM_005273504.2:c.329C>T	XP_005273561.1:p.Ser110Leu
NM_001363743.1:c.200C>T	NP_001350672.1:p.Ser67Leu
XM_005273504.3:c.329C>T	XP_005273561.1:p.Ser110Leu
NM_177924.5:c.395C>T MANE Select	NP_808592.2:p.Ser132Leu
NM_001127505.3:c.377C>T	NP_001120977.1:p.Ser126Leu
NM_001363743.2:c.200C>T	NP_001350672.1:p.Ser67Leu
NM_004315.6:c.443C>T	NP_004306.3:p.Ser148Leu