Canonical Allele Identifier: CA370429376

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918927C>G (hg19) ; chr8:g.18061418C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061418C>G , CM000670.2:g.18061418C>G	GRCh38
NC_000008.10:g.17918927C>G , CM000670.1:g.17918927C>G	GRCh37
NC_000008.9:g.17963207C>G	NCBI36
NG_008985.1:g.28581G>C
NG_008985.2:g.28581G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.792G>C	ENSP00000371152.4:p.Trp264Cys
ENST00000517409.2:n.712G>C
ENST00000518746.2:n.2430G>C
ENST00000519545.6:n.761G>C
ENST00000520781.6:c.669G>C	ENSP00000427751.1:p.Trp223Cys
ENST00000521542.2:n.52G>C
ENST00000635756.1:c.157G>C
ENST00000635944.1:c.*580G>C	ENSP00000490195.1:n.*580G>C
ENST00000635998.1:c.744G>C	ENSP00000490506.1:p.Trp248Cys
ENST00000636009.1:c.601G>C	ENSP00000489988.1:n.601G>C
ENST00000636033.1:c.*580G>C	ENSP00000489617.1:n.*580G>C
ENST00000636050.1:c.*587G>C	ENSP00000490562.1:n.*587G>C
ENST00000636128.1:c.423G>C	ENSP00000489789.1:p.Trp141Cys
ENST00000636160.1:c.*636G>C	ENSP00000489651.1:n.*636G>C
ENST00000636171.1:c.687G>C	ENSP00000489761.1:p.Trp229Cys
ENST00000636455.1:c.792G>C	ENSP00000490502.1:p.Trp264Cys
ENST00000636494.1:c.*524G>C	ENSP00000490388.1:n.*524G>C
ENST00000636563.1:n.406G>C
ENST00000636577.1:c.684G>C	ENSP00000490027.1:p.Trp228Cys
ENST00000636691.1:c.549G>C	ENSP00000490725.1:p.Trp183Cys
ENST00000636701.1:c.*395G>C	ENSP00000489800.1:n.*395G>C
ENST00000636815.1:c.661G>C
ENST00000636920.1:c.*580G>C	ENSP00000490437.1:n.*580G>C
ENST00000636997.1:c.657G>C	ENSP00000490093.1:p.Trp219Cys
ENST00000637013.1:c.*1112G>C	ENSP00000490596.1:n.*1112G>C
ENST00000637014.1:n.1151G>C
ENST00000637095.1:c.*524G>C	ENSP00000490415.1:n.*524G>C
ENST00000637244.1:c.*1262G>C	ENSP00000490188.1:n.*1262G>C
ENST00000637343.1:n.2181G>C
ENST00000637429.1:c.*956G>C	ENSP00000490522.1:n.*956G>C
ENST00000637484.1:c.*706G>C	ENSP00000490837.1:n.*706G>C
ENST00000637528.1:c.681G>C	ENSP00000490801.1:p.Trp227Cys
ENST00000637609.1:n.3465G>C
ENST00000637636.1:c.738G>C	ENSP00000490112.1:p.Trp246Cys
ENST00000637790.2:c.744G>C MANE Select	ENSP00000490272.1:p.Trp248Cys
ENST00000637857.1:n.1110G>C
ENST00000637922.1:c.549G>C	ENSP00000490071.1:p.Trp183Cys
ENST00000637991.1:c.717G>C	ENSP00000489901.1:p.Trp239Cys
ENST00000638028.1:n.961G>C
ENST00000638069.1:n.1565G>C
ENST00000262097.10:c.744G>C	ENSP00000262097.6:p.Trp248Cys
ENST00000314146.10:c.726G>C	ENSP00000326970.10:p.Trp242Cys
ENST00000381733.8:c.792G>C	ENSP00000371152.4:p.Trp264Cys
ENST00000518746.1:n.561G>C
ENST00000519468.5:n.573G>C
ENST00000520781.5:c.669G>C	ENSP00000427751.1:p.Trp223Cys
ENST00000521542.1:n.457G>C
NM_001127505.1:c.726G>C	NP_001120977.1:p.Trp242Cys
NM_001127505.2:c.726G>C	NP_001120977.1:p.Trp242Cys
NM_004315.4:c.792G>C	NP_004306.3:p.Trp264Cys
NM_004315.5:c.792G>C	NP_004306.3:p.Trp264Cys
NM_177924.3:c.744G>C	NP_808592.2:p.Trp248Cys
NM_177924.4:c.744G>C	NP_808592.2:p.Trp248Cys
XM_005273504.2:c.678G>C	XP_005273561.1:p.Trp226Cys
NM_001363743.1:c.549G>C	NP_001350672.1:p.Trp183Cys
XM_005273504.3:c.678G>C	XP_005273561.1:p.Trp226Cys
NM_177924.5:c.744G>C MANE Select	NP_808592.2:p.Trp248Cys
NM_001127505.3:c.726G>C	NP_001120977.1:p.Trp242Cys
NM_001363743.2:c.549G>C	NP_001350672.1:p.Trp183Cys
NM_004315.6:c.792G>C	NP_004306.3:p.Trp264Cys