Canonical Allele Identifier: CA459877209

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17916940T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18059431T>G , CM000670.2:g.18059431T>G	GRCh38
NC_000008.10:g.17916940T>G , CM000670.1:g.17916940T>G	GRCh37
NC_000008.9:g.17961220T>G	NCBI36
NG_008985.1:g.30568A>C
NG_008985.2:g.30568A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.999A>C	ENSP00000371152.4:p.Val333=
ENST00000518746.2:n.2637A>C
ENST00000520781.6:c.876A>C	ENSP00000427751.1:p.Val292=
ENST00000635756.1:c.364A>C
ENST00000635944.1:c.*787A>C	ENSP00000490195.1:n.*787A>C
ENST00000635998.1:c.951A>C	ENSP00000490506.1:p.Val317=
ENST00000636009.1:c.808A>C	ENSP00000489988.1:n.808A>C
ENST00000636033.1:c.*787A>C	ENSP00000489617.1:n.*787A>C
ENST00000636050.1:c.*794A>C	ENSP00000490562.1:n.*794A>C
ENST00000636128.1:c.630A>C	ENSP00000489789.1:p.Val210=
ENST00000636160.1:c.*843A>C	ENSP00000489651.1:n.*843A>C
ENST00000636171.1:c.894A>C	ENSP00000489761.1:p.Val298=
ENST00000636455.1:c.965+141A>C	ENSP00000490502.1:n.965+141A>C
ENST00000636494.1:c.*731A>C	ENSP00000490388.1:n.*731A>C
ENST00000636563.1:n.613A>C
ENST00000636577.1:c.891A>C	ENSP00000490027.1:p.Val297=
ENST00000636691.1:c.756A>C	ENSP00000490725.1:p.Val252=
ENST00000636701.1:c.*602A>C	ENSP00000489800.1:n.*602A>C
ENST00000636815.1:c.868A>C
ENST00000636920.1:c.*787A>C	ENSP00000490437.1:n.*787A>C
ENST00000636997.1:c.864A>C	ENSP00000490093.1:p.Val288=
ENST00000637013.1:c.*1319A>C	ENSP00000490596.1:n.*1319A>C
ENST00000637014.1:n.1358A>C
ENST00000637095.1:c.*731A>C	ENSP00000490415.1:n.*731A>C
ENST00000637244.1:c.*1469A>C	ENSP00000490188.1:n.*1469A>C
ENST00000637343.1:n.2388A>C
ENST00000637429.1:c.*1163A>C	ENSP00000490522.1:n.*1163A>C
ENST00000637484.1:c.*913A>C	ENSP00000490837.1:n.*913A>C
ENST00000637528.1:c.888A>C	ENSP00000490801.1:p.Val296=
ENST00000637609.1:n.3672A>C
ENST00000637636.1:c.945A>C	ENSP00000490112.1:p.Val315=
ENST00000637790.2:c.951A>C MANE Select	ENSP00000490272.1:p.Val317=
ENST00000637857.1:n.1317A>C
ENST00000637922.1:c.756A>C	ENSP00000490071.1:p.Val252=
ENST00000637991.1:c.924A>C	ENSP00000489901.1:p.Val308=
ENST00000638028.1:n.1168A>C
ENST00000638069.1:n.1772A>C
ENST00000262097.10:c.951A>C	ENSP00000262097.6:p.Val317=
ENST00000314146.10:c.933A>C	ENSP00000326970.10:p.Val311=
ENST00000381733.8:c.999A>C	ENSP00000371152.4:p.Val333=
ENST00000520781.5:c.876A>C	ENSP00000427751.1:p.Val292=
NM_001127505.1:c.933A>C	NP_001120977.1:p.Val311=
NM_001127505.2:c.933A>C	NP_001120977.1:p.Val311=
NM_004315.4:c.999A>C	NP_004306.3:p.Val333=
NM_004315.5:c.999A>C	NP_004306.3:p.Val333=
NM_177924.3:c.951A>C	NP_808592.2:p.Val317=
NM_177924.4:c.951A>C	NP_808592.2:p.Val317=
XM_005273504.2:c.885A>C	XP_005273561.1:p.Val295=
NM_001363743.1:c.756A>C	NP_001350672.1:p.Val252=
XM_005273504.3:c.885A>C	XP_005273561.1:p.Val295=
NM_177924.5:c.951A>C MANE Select	NP_808592.2:p.Val317=
NM_001127505.3:c.933A>C	NP_001120977.1:p.Val311=
NM_001363743.2:c.756A>C	NP_001350672.1:p.Val252=
NM_004315.6:c.999A>C	NP_004306.3:p.Val333=