Canonical Allele Identifier: CA370429386

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918929A>G (hg19) ; chr8:g.18061420A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061420A>G , CM000670.2:g.18061420A>G	GRCh38
NC_000008.10:g.17918929A>G , CM000670.1:g.17918929A>G	GRCh37
NC_000008.9:g.17963209A>G	NCBI36
NG_008985.1:g.28579T>C
NG_008985.2:g.28579T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.790T>C	ENSP00000371152.4:p.Trp264Arg
ENST00000517409.2:n.710T>C
ENST00000518746.2:n.2428T>C
ENST00000519545.6:n.759T>C
ENST00000520781.6:c.667T>C	ENSP00000427751.1:p.Trp223Arg
ENST00000521542.2:n.50T>C
ENST00000635756.1:c.155T>C
ENST00000635944.1:c.*578T>C	ENSP00000490195.1:n.*578T>C
ENST00000635998.1:c.742T>C	ENSP00000490506.1:p.Trp248Arg
ENST00000636009.1:c.599T>C	ENSP00000489988.1:n.599T>C
ENST00000636033.1:c.*578T>C	ENSP00000489617.1:n.*578T>C
ENST00000636050.1:c.*585T>C	ENSP00000490562.1:n.*585T>C
ENST00000636128.1:c.421T>C	ENSP00000489789.1:p.Trp141Arg
ENST00000636160.1:c.*634T>C	ENSP00000489651.1:n.*634T>C
ENST00000636171.1:c.685T>C	ENSP00000489761.1:p.Trp229Arg
ENST00000636455.1:c.790T>C	ENSP00000490502.1:p.Trp264Arg
ENST00000636494.1:c.*522T>C	ENSP00000490388.1:n.*522T>C
ENST00000636563.1:n.404T>C
ENST00000636577.1:c.682T>C	ENSP00000490027.1:p.Trp228Arg
ENST00000636691.1:c.547T>C	ENSP00000490725.1:p.Trp183Arg
ENST00000636701.1:c.*393T>C	ENSP00000489800.1:n.*393T>C
ENST00000636815.1:c.659T>C
ENST00000636920.1:c.*578T>C	ENSP00000490437.1:n.*578T>C
ENST00000636997.1:c.655T>C	ENSP00000490093.1:p.Trp219Arg
ENST00000637013.1:c.*1110T>C	ENSP00000490596.1:n.*1110T>C
ENST00000637014.1:n.1149T>C
ENST00000637095.1:c.*522T>C	ENSP00000490415.1:n.*522T>C
ENST00000637244.1:c.*1260T>C	ENSP00000490188.1:n.*1260T>C
ENST00000637343.1:n.2179T>C
ENST00000637429.1:c.*954T>C	ENSP00000490522.1:n.*954T>C
ENST00000637484.1:c.*704T>C	ENSP00000490837.1:n.*704T>C
ENST00000637528.1:c.679T>C	ENSP00000490801.1:p.Trp227Arg
ENST00000637609.1:n.3463T>C
ENST00000637636.1:c.736T>C	ENSP00000490112.1:p.Trp246Arg
ENST00000637790.2:c.742T>C MANE Select	ENSP00000490272.1:p.Trp248Arg
ENST00000637857.1:n.1108T>C
ENST00000637922.1:c.547T>C	ENSP00000490071.1:p.Trp183Arg
ENST00000637991.1:c.715T>C	ENSP00000489901.1:p.Trp239Arg
ENST00000638028.1:n.959T>C
ENST00000638069.1:n.1563T>C
ENST00000262097.10:c.742T>C	ENSP00000262097.6:p.Trp248Arg
ENST00000314146.10:c.724T>C	ENSP00000326970.10:p.Trp242Arg
ENST00000381733.8:c.790T>C	ENSP00000371152.4:p.Trp264Arg
ENST00000518746.1:n.559T>C
ENST00000519468.5:n.571T>C
ENST00000520781.5:c.667T>C	ENSP00000427751.1:p.Trp223Arg
ENST00000521542.1:n.455T>C
NM_001127505.1:c.724T>C	NP_001120977.1:p.Trp242Arg
NM_001127505.2:c.724T>C	NP_001120977.1:p.Trp242Arg
NM_004315.4:c.790T>C	NP_004306.3:p.Trp264Arg
NM_004315.5:c.790T>C	NP_004306.3:p.Trp264Arg
NM_177924.3:c.742T>C	NP_808592.2:p.Trp248Arg
NM_177924.4:c.742T>C	NP_808592.2:p.Trp248Arg
XM_005273504.2:c.676T>C	XP_005273561.1:p.Trp226Arg
NM_001363743.1:c.547T>C	NP_001350672.1:p.Trp183Arg
XM_005273504.3:c.676T>C	XP_005273561.1:p.Trp226Arg
NM_177924.5:c.742T>C MANE Select	NP_808592.2:p.Trp248Arg
NM_001127505.3:c.724T>C	NP_001120977.1:p.Trp242Arg
NM_001363743.2:c.547T>C	NP_001350672.1:p.Trp183Arg
NM_004315.6:c.790T>C	NP_004306.3:p.Trp264Arg