Canonical Allele Identifier: CA459662210

Gene: ASAH1

Linked Data

• dbSNP Id: rs1799694850
• MyVariant Identifiers: chr8:g.17918939T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061430T>C , CM000670.2:g.18061430T>C	GRCh38
NC_000008.10:g.17918939T>C , CM000670.1:g.17918939T>C	GRCh37
NC_000008.9:g.17963219T>C	NCBI36
NG_008985.1:g.28569A>G
NG_008985.2:g.28569A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.780A>G	ENSP00000371152.4:p.Lys260=
ENST00000517409.2:n.700A>G
ENST00000518746.2:n.2418A>G
ENST00000519545.6:n.749A>G
ENST00000520781.6:c.657A>G	ENSP00000427751.1:p.Lys219=
ENST00000521542.2:n.40A>G
ENST00000635756.1:c.145A>G
ENST00000635944.1:c.*568A>G	ENSP00000490195.1:n.*568A>G
ENST00000635998.1:c.732A>G	ENSP00000490506.1:p.Lys244=
ENST00000636009.1:c.589A>G	ENSP00000489988.1:n.589A>G
ENST00000636033.1:c.*568A>G	ENSP00000489617.1:n.*568A>G
ENST00000636050.1:c.*575A>G	ENSP00000490562.1:n.*575A>G
ENST00000636128.1:c.411A>G	ENSP00000489789.1:p.Lys137=
ENST00000636160.1:c.*624A>G	ENSP00000489651.1:n.*624A>G
ENST00000636171.1:c.675A>G	ENSP00000489761.1:p.Lys225=
ENST00000636455.1:c.780A>G	ENSP00000490502.1:p.Lys260=
ENST00000636494.1:c.*512A>G	ENSP00000490388.1:n.*512A>G
ENST00000636563.1:n.394A>G
ENST00000636577.1:c.672A>G	ENSP00000490027.1:p.Lys224=
ENST00000636691.1:c.537A>G	ENSP00000490725.1:p.Lys179=
ENST00000636701.1:c.*383A>G	ENSP00000489800.1:n.*383A>G
ENST00000636815.1:c.649A>G
ENST00000636920.1:c.*568A>G	ENSP00000490437.1:n.*568A>G
ENST00000636997.1:c.645A>G	ENSP00000490093.1:p.Lys215=
ENST00000637013.1:c.*1100A>G	ENSP00000490596.1:n.*1100A>G
ENST00000637014.1:n.1139A>G
ENST00000637095.1:c.*512A>G	ENSP00000490415.1:n.*512A>G
ENST00000637244.1:c.*1250A>G	ENSP00000490188.1:n.*1250A>G
ENST00000637343.1:n.2169A>G
ENST00000637429.1:c.*944A>G	ENSP00000490522.1:n.*944A>G
ENST00000637484.1:c.*694A>G	ENSP00000490837.1:n.*694A>G
ENST00000637528.1:c.669A>G	ENSP00000490801.1:p.Lys223=
ENST00000637609.1:n.3453A>G
ENST00000637636.1:c.726A>G	ENSP00000490112.1:p.Lys242=
ENST00000637790.2:c.732A>G MANE Select	ENSP00000490272.1:p.Lys244=
ENST00000637857.1:n.1098A>G
ENST00000637922.1:c.537A>G	ENSP00000490071.1:p.Lys179=
ENST00000637991.1:c.705A>G	ENSP00000489901.1:p.Lys235=
ENST00000638028.1:n.949A>G
ENST00000638069.1:n.1553A>G
ENST00000262097.10:c.732A>G	ENSP00000262097.6:p.Lys244=
ENST00000314146.10:c.714A>G	ENSP00000326970.10:p.Lys238=
ENST00000381733.8:c.780A>G	ENSP00000371152.4:p.Lys260=
ENST00000518746.1:n.549A>G
ENST00000519468.5:n.561A>G
ENST00000520781.5:c.657A>G	ENSP00000427751.1:p.Lys219=
ENST00000521542.1:n.445A>G
NM_001127505.1:c.714A>G	NP_001120977.1:p.Lys238=
NM_001127505.2:c.714A>G	NP_001120977.1:p.Lys238=
NM_004315.4:c.780A>G	NP_004306.3:p.Lys260=
NM_004315.5:c.780A>G	NP_004306.3:p.Lys260=
NM_177924.3:c.732A>G	NP_808592.2:p.Lys244=
NM_177924.4:c.732A>G	NP_808592.2:p.Lys244=
XM_005273504.2:c.666A>G	XP_005273561.1:p.Lys222=
NM_001363743.1:c.537A>G	NP_001350672.1:p.Lys179=
XM_005273504.3:c.666A>G	XP_005273561.1:p.Lys222=
NM_177924.5:c.732A>G MANE Select	NP_808592.2:p.Lys244=
NM_001127505.3:c.714A>G	NP_001120977.1:p.Lys238=
NM_001363743.2:c.537A>G	NP_001350672.1:p.Lys179=
NM_004315.6:c.780A>G	NP_004306.3:p.Lys260=