Canonical Allele Identifier: CA459662218

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918951A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061442A>G , CM000670.2:g.18061442A>G	GRCh38
NC_000008.10:g.17918951A>G , CM000670.1:g.17918951A>G	GRCh37
NC_000008.9:g.17963231A>G	NCBI36
NG_008985.1:g.28557T>C
NG_008985.2:g.28557T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.768T>C	ENSP00000371152.4:p.Ile256=
ENST00000517409.2:n.688T>C
ENST00000518746.2:n.2406T>C
ENST00000519545.6:n.737T>C
ENST00000520781.6:c.645T>C	ENSP00000427751.1:p.Ile215=
ENST00000521542.2:n.28T>C
ENST00000635756.1:c.133T>C
ENST00000635944.1:c.*556T>C	ENSP00000490195.1:n.*556T>C
ENST00000635998.1:c.720T>C	ENSP00000490506.1:p.Ile240=
ENST00000636009.1:c.577T>C	ENSP00000489988.1:n.577T>C
ENST00000636033.1:c.*556T>C	ENSP00000489617.1:n.*556T>C
ENST00000636050.1:c.*563T>C	ENSP00000490562.1:n.*563T>C
ENST00000636128.1:c.399T>C	ENSP00000489789.1:p.Ile133=
ENST00000636160.1:c.*612T>C	ENSP00000489651.1:n.*612T>C
ENST00000636171.1:c.663T>C	ENSP00000489761.1:p.Ile221=
ENST00000636455.1:c.768T>C	ENSP00000490502.1:p.Ile256=
ENST00000636494.1:c.*500T>C	ENSP00000490388.1:n.*500T>C
ENST00000636563.1:n.382T>C
ENST00000636577.1:c.660T>C	ENSP00000490027.1:p.Ile220=
ENST00000636691.1:c.525T>C	ENSP00000490725.1:p.Ile175=
ENST00000636701.1:c.*371T>C	ENSP00000489800.1:n.*371T>C
ENST00000636815.1:c.637T>C
ENST00000636920.1:c.*556T>C	ENSP00000490437.1:n.*556T>C
ENST00000636997.1:c.633T>C	ENSP00000490093.1:p.Ile211=
ENST00000637013.1:c.*1088T>C	ENSP00000490596.1:n.*1088T>C
ENST00000637014.1:n.1127T>C
ENST00000637095.1:c.*500T>C	ENSP00000490415.1:n.*500T>C
ENST00000637244.1:c.*1238T>C	ENSP00000490188.1:n.*1238T>C
ENST00000637343.1:n.2157T>C
ENST00000637429.1:c.*932T>C	ENSP00000490522.1:n.*932T>C
ENST00000637484.1:c.*682T>C	ENSP00000490837.1:n.*682T>C
ENST00000637528.1:c.657T>C	ENSP00000490801.1:p.Ile219=
ENST00000637609.1:n.3441T>C
ENST00000637636.1:c.714T>C	ENSP00000490112.1:p.Ile238=
ENST00000637790.2:c.720T>C MANE Select	ENSP00000490272.1:p.Ile240=
ENST00000637857.1:n.1086T>C
ENST00000637922.1:c.525T>C	ENSP00000490071.1:p.Ile175=
ENST00000637991.1:c.693T>C	ENSP00000489901.1:p.Ile231=
ENST00000638028.1:n.937T>C
ENST00000638069.1:n.1541T>C
ENST00000262097.10:c.720T>C	ENSP00000262097.6:p.Ile240=
ENST00000314146.10:c.702T>C	ENSP00000326970.10:p.Ile234=
ENST00000381733.8:c.768T>C	ENSP00000371152.4:p.Ile256=
ENST00000518746.1:n.537T>C
ENST00000519468.5:n.549T>C
ENST00000520781.5:c.645T>C	ENSP00000427751.1:p.Ile215=
ENST00000521542.1:n.433T>C
NM_001127505.1:c.702T>C	NP_001120977.1:p.Ile234=
NM_001127505.2:c.702T>C	NP_001120977.1:p.Ile234=
NM_004315.4:c.768T>C	NP_004306.3:p.Ile256=
NM_004315.5:c.768T>C	NP_004306.3:p.Ile256=
NM_177924.3:c.720T>C	NP_808592.2:p.Ile240=
NM_177924.4:c.720T>C	NP_808592.2:p.Ile240=
XM_005273504.2:c.654T>C	XP_005273561.1:p.Ile218=
NM_001363743.1:c.525T>C	NP_001350672.1:p.Ile175=
XM_005273504.3:c.654T>C	XP_005273561.1:p.Ile218=
NM_177924.5:c.720T>C MANE Select	NP_808592.2:p.Ile240=
NM_001127505.3:c.702T>C	NP_001120977.1:p.Ile234=
NM_001363743.2:c.525T>C	NP_001350672.1:p.Ile175=
NM_004315.6:c.768T>C	NP_004306.3:p.Ile256=