Canonical Allele Identifier: CA370429986

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18062334A>G , CM000670.2:g.18062334A>G	GRCh38
NC_000008.10:g.17919843A>G , CM000670.1:g.17919843A>G	GRCh37
NC_000008.9:g.17964123A>G	NCBI36
NG_008985.1:g.27665T>C
NG_008985.2:g.27665T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.593T>C MANE Select	NP_808592.2:p.Val198Ala
ENST00000637790.2:c.593T>C MANE Select	ENSP00000490272.1:p.Val198Ala
NM_001127505.1:c.575T>C	NP_001120977.1:p.Val192Ala
NM_001127505.2:c.575T>C	NP_001120977.1:p.Val192Ala
NM_001127505.3:c.575T>C	NP_001120977.1:p.Val192Ala
NM_001363743.1:c.398T>C	NP_001350672.1:p.Val133Ala
NM_001363743.2:c.398T>C	NP_001350672.1:p.Val133Ala
NM_004315.4:c.641T>C	NP_004306.3:p.Val214Ala
NM_004315.5:c.641T>C	NP_004306.3:p.Val214Ala
NM_004315.6:c.641T>C	NP_004306.3:p.Val214Ala
NM_177924.3:c.593T>C	NP_808592.2:p.Val198Ala
NM_177924.4:c.593T>C	NP_808592.2:p.Val198Ala
ENST00000262097.10:c.593T>C	ENSP00000262097.6:p.Val198Ala
ENST00000314146.10:c.575T>C	ENSP00000326970.10:p.Val192Ala
ENST00000381733.8:c.641T>C	ENSP00000371152.4:p.Val214Ala
ENST00000381733.9:c.641T>C	ENSP00000371152.4:p.Val214Ala
ENST00000517409.1:n.530T>C
ENST00000517409.2:n.530T>C
ENST00000518746.2:n.1514T>C
ENST00000519468.5:n.422T>C
ENST00000519545.5:n.607T>C
ENST00000519545.6:n.610T>C
ENST00000520781.5:c.518T>C	ENSP00000427751.1:p.Val173Ala
ENST00000520781.6:c.518T>C	ENSP00000427751.1:p.Val173Ala
ENST00000523593.5:n.446T>C
ENST00000635756.1:c.15T>C
ENST00000635944.1:c.*429T>C	ENSP00000490195.1:n.*429T>C
ENST00000635998.1:c.593T>C	ENSP00000490506.1:p.Val198Ala
ENST00000636009.1:c.450T>C	ENSP00000489988.1:n.450T>C
ENST00000636033.1:c.*429T>C	ENSP00000489617.1:n.*429T>C
ENST00000636050.1:c.*436T>C	ENSP00000490562.1:n.*436T>C
ENST00000636128.1:c.383-876T>C	ENSP00000489789.1:n.383-876T>C
ENST00000636160.1:c.*485T>C	ENSP00000489651.1:n.*485T>C
ENST00000636171.1:c.536T>C	ENSP00000489761.1:p.Val179Ala
ENST00000636455.1:c.641T>C	ENSP00000490502.1:p.Val214Ala
ENST00000636494.1:c.*373T>C	ENSP00000490388.1:n.*373T>C
ENST00000636563.1:n.255T>C
ENST00000636577.1:c.533T>C	ENSP00000490027.1:p.Val178Ala
ENST00000636691.1:c.398T>C	ENSP00000490725.1:p.Val133Ala
ENST00000636701.1:c.*244T>C	ENSP00000489800.1:n.*244T>C
ENST00000636719.1:n.387T>C
ENST00000636815.1:c.510T>C
ENST00000636920.1:c.*429T>C	ENSP00000490437.1:n.*429T>C
ENST00000636997.1:c.506T>C	ENSP00000490093.1:p.Val169Ala
ENST00000637013.1:c.*961T>C	ENSP00000490596.1:n.*961T>C
ENST00000637014.1:n.462T>C
ENST00000637095.1:c.*373T>C	ENSP00000490415.1:n.*373T>C
ENST00000637244.1:c.*1111T>C	ENSP00000490188.1:n.*1111T>C
ENST00000637343.1:n.2030T>C
ENST00000637429.1:c.*805T>C	ENSP00000490522.1:n.*805T>C
ENST00000637484.1:c.*555T>C	ENSP00000490837.1:n.*555T>C
ENST00000637528.1:c.530T>C	ENSP00000490801.1:p.Val177Ala
ENST00000637609.1:n.3314T>C
ENST00000637636.1:c.587T>C	ENSP00000490112.1:p.Val196Ala
ENST00000637718.1:c.398T>C	ENSP00000490133.1:p.Val133Ala
ENST00000637857.1:n.194T>C
ENST00000637922.1:c.398T>C	ENSP00000490071.1:p.Val133Ala
ENST00000637991.1:c.566T>C	ENSP00000489901.1:p.Val189Ala
ENST00000638028.1:n.810T>C
ENST00000638069.1:n.649T>C
XM_005273504.2:c.527T>C	XP_005273561.1:p.Val176Ala
XM_005273504.3:c.527T>C	XP_005273561.1:p.Val176Ala