Canonical Allele Identifier: CA370429357

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 1361569
• ClinVar RCV Id: RCV001931860
• dbSNP Id: rs1239363191
• MyVariant Identifiers: chr8:g.17918922C>G (hg19) ; chr8:g.18061413C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061413C>G , CM000670.2:g.18061413C>G	GRCh38
NC_000008.10:g.17918922C>G , CM000670.1:g.17918922C>G	GRCh37
NC_000008.9:g.17963202C>G	NCBI36
NG_008985.1:g.28586G>C
NG_008985.2:g.28586G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.797G>C	ENSP00000371152.4:p.Gly266Ala
ENST00000517409.2:n.717G>C
ENST00000518746.2:n.2435G>C
ENST00000519545.6:n.766G>C
ENST00000520781.6:c.674G>C	ENSP00000427751.1:p.Gly225Ala
ENST00000521542.2:n.57G>C
ENST00000635756.1:c.162G>C
ENST00000635944.1:c.*585G>C	ENSP00000490195.1:n.*585G>C
ENST00000635998.1:c.749G>C	ENSP00000490506.1:p.Gly250Ala
ENST00000636009.1:c.606G>C	ENSP00000489988.1:n.606G>C
ENST00000636033.1:c.*585G>C	ENSP00000489617.1:n.*585G>C
ENST00000636050.1:c.*592G>C	ENSP00000490562.1:n.*592G>C
ENST00000636128.1:c.428G>C	ENSP00000489789.1:p.Gly143Ala
ENST00000636160.1:c.*641G>C	ENSP00000489651.1:n.*641G>C
ENST00000636171.1:c.692G>C	ENSP00000489761.1:p.Gly231Ala
ENST00000636455.1:c.797G>C	ENSP00000490502.1:p.Gly266Ala
ENST00000636494.1:c.*529G>C	ENSP00000490388.1:n.*529G>C
ENST00000636563.1:n.411G>C
ENST00000636577.1:c.689G>C	ENSP00000490027.1:p.Gly230Ala
ENST00000636691.1:c.554G>C	ENSP00000490725.1:p.Gly185Ala
ENST00000636701.1:c.*400G>C	ENSP00000489800.1:n.*400G>C
ENST00000636815.1:c.666G>C
ENST00000636920.1:c.*585G>C	ENSP00000490437.1:n.*585G>C
ENST00000636997.1:c.662G>C	ENSP00000490093.1:p.Gly221Ala
ENST00000637013.1:c.*1117G>C	ENSP00000490596.1:n.*1117G>C
ENST00000637014.1:n.1156G>C
ENST00000637095.1:c.*529G>C	ENSP00000490415.1:n.*529G>C
ENST00000637244.1:c.*1267G>C	ENSP00000490188.1:n.*1267G>C
ENST00000637343.1:n.2186G>C
ENST00000637429.1:c.*961G>C	ENSP00000490522.1:n.*961G>C
ENST00000637484.1:c.*711G>C	ENSP00000490837.1:n.*711G>C
ENST00000637528.1:c.686G>C	ENSP00000490801.1:p.Gly229Ala
ENST00000637609.1:n.3470G>C
ENST00000637636.1:c.743G>C	ENSP00000490112.1:p.Gly248Ala
ENST00000637790.2:c.749G>C MANE Select	ENSP00000490272.1:p.Gly250Ala
ENST00000637857.1:n.1115G>C
ENST00000637922.1:c.554G>C	ENSP00000490071.1:p.Gly185Ala
ENST00000637991.1:c.722G>C	ENSP00000489901.1:p.Gly241Ala
ENST00000638028.1:n.966G>C
ENST00000638069.1:n.1570G>C
ENST00000262097.10:c.749G>C	ENSP00000262097.6:p.Gly250Ala
ENST00000314146.10:c.731G>C	ENSP00000326970.10:p.Gly244Ala
ENST00000381733.8:c.797G>C	ENSP00000371152.4:p.Gly266Ala
ENST00000518746.1:n.566G>C
ENST00000519468.5:n.578G>C
ENST00000520781.5:c.674G>C	ENSP00000427751.1:p.Gly225Ala
ENST00000521542.1:n.462G>C
NM_001127505.1:c.731G>C	NP_001120977.1:p.Gly244Ala
NM_001127505.2:c.731G>C	NP_001120977.1:p.Gly244Ala
NM_004315.4:c.797G>C	NP_004306.3:p.Gly266Ala
NM_004315.5:c.797G>C	NP_004306.3:p.Gly266Ala
NM_177924.3:c.749G>C	NP_808592.2:p.Gly250Ala
NM_177924.4:c.749G>C	NP_808592.2:p.Gly250Ala
XM_005273504.2:c.683G>C	XP_005273561.1:p.Gly228Ala
NM_001363743.1:c.554G>C	NP_001350672.1:p.Gly185Ala
XM_005273504.3:c.683G>C	XP_005273561.1:p.Gly228Ala
NM_177924.5:c.749G>C MANE Select	NP_808592.2:p.Gly250Ala
NM_001127505.3:c.731G>C	NP_001120977.1:p.Gly244Ala
NM_001363743.2:c.554G>C	NP_001350672.1:p.Gly185Ala
NM_004315.6:c.797G>C	NP_004306.3:p.Gly266Ala