Canonical Allele Identifier: CA370429378

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 2703279
• ClinVar RCV Id: RCV003579234
• gnomAD v4: 8-18061418-C-T
• MyVariant Identifiers: chr8:g.17918927C>T (hg19) ; chr8:g.18061418C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.792G>A	ENSP00000371152.4:p.Trp264Ter
ENST00000517409.2:n.712G>A
ENST00000518746.2:n.2430G>A
ENST00000519545.6:n.761G>A
ENST00000520781.6:c.669G>A	ENSP00000427751.1:p.Trp223Ter
ENST00000521542.2:n.52G>A
ENST00000635756.1:c.157G>A
ENST00000635944.1:c.*580G>A	ENSP00000490195.1:n.*580G>A
ENST00000635998.1:c.744G>A	ENSP00000490506.1:p.Trp248Ter
ENST00000636009.1:c.601G>A	ENSP00000489988.1:n.601G>A
ENST00000636033.1:c.*580G>A	ENSP00000489617.1:n.*580G>A
ENST00000636050.1:c.*587G>A	ENSP00000490562.1:n.*587G>A
ENST00000636128.1:c.423G>A	ENSP00000489789.1:p.Trp141Ter
ENST00000636160.1:c.*636G>A	ENSP00000489651.1:n.*636G>A
ENST00000636171.1:c.687G>A	ENSP00000489761.1:p.Trp229Ter
ENST00000636455.1:c.792G>A	ENSP00000490502.1:p.Trp264Ter
ENST00000636494.1:c.*524G>A	ENSP00000490388.1:n.*524G>A
ENST00000636563.1:n.406G>A
ENST00000636577.1:c.684G>A	ENSP00000490027.1:p.Trp228Ter
ENST00000636691.1:c.549G>A	ENSP00000490725.1:p.Trp183Ter
ENST00000636701.1:c.*395G>A	ENSP00000489800.1:n.*395G>A
ENST00000636815.1:c.661G>A
ENST00000636920.1:c.*580G>A	ENSP00000490437.1:n.*580G>A
ENST00000636997.1:c.657G>A	ENSP00000490093.1:p.Trp219Ter
ENST00000637013.1:c.*1112G>A	ENSP00000490596.1:n.*1112G>A
ENST00000637014.1:n.1151G>A
ENST00000637095.1:c.*524G>A	ENSP00000490415.1:n.*524G>A
ENST00000637244.1:c.*1262G>A	ENSP00000490188.1:n.*1262G>A
ENST00000637343.1:n.2181G>A
ENST00000637429.1:c.*956G>A	ENSP00000490522.1:n.*956G>A
ENST00000637484.1:c.*706G>A	ENSP00000490837.1:n.*706G>A
ENST00000637528.1:c.681G>A	ENSP00000490801.1:p.Trp227Ter
ENST00000637609.1:n.3465G>A
ENST00000637636.1:c.738G>A	ENSP00000490112.1:p.Trp246Ter
ENST00000637790.2:c.744G>A MANE Select	ENSP00000490272.1:p.Trp248Ter
ENST00000637857.1:n.1110G>A
ENST00000637922.1:c.549G>A	ENSP00000490071.1:p.Trp183Ter
ENST00000637991.1:c.717G>A	ENSP00000489901.1:p.Trp239Ter
ENST00000638028.1:n.961G>A
ENST00000638069.1:n.1565G>A
ENST00000262097.10:c.744G>A	ENSP00000262097.6:p.Trp248Ter
ENST00000314146.10:c.726G>A	ENSP00000326970.10:p.Trp242Ter
ENST00000381733.8:c.792G>A	ENSP00000371152.4:p.Trp264Ter
ENST00000518746.1:n.561G>A
ENST00000519468.5:n.573G>A
ENST00000520781.5:c.669G>A	ENSP00000427751.1:p.Trp223Ter
ENST00000521542.1:n.457G>A
NM_001127505.1:c.726G>A	NP_001120977.1:p.Trp242Ter
NM_001127505.2:c.726G>A	NP_001120977.1:p.Trp242Ter
NM_004315.4:c.792G>A	NP_004306.3:p.Trp264Ter
NM_004315.5:c.792G>A	NP_004306.3:p.Trp264Ter
NM_177924.3:c.744G>A	NP_808592.2:p.Trp248Ter
NM_177924.4:c.744G>A	NP_808592.2:p.Trp248Ter
XM_005273504.2:c.678G>A	XP_005273561.1:p.Trp226Ter
NM_001363743.1:c.549G>A	NP_001350672.1:p.Trp183Ter
XM_005273504.3:c.678G>A	XP_005273561.1:p.Trp226Ter
NM_177924.5:c.744G>A MANE Select	NP_808592.2:p.Trp248Ter
NM_001127505.3:c.726G>A	NP_001120977.1:p.Trp242Ter
NM_001363743.2:c.549G>A	NP_001350672.1:p.Trp183Ter
NM_004315.6:c.792G>A	NP_004306.3:p.Trp264Ter