Canonical Allele Identifier: CA370433049
Community Standard Title: NM_177924.5(ASAH1):c.290T>G (p.Val97Gly)
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18069805A>C , CM000670.2:g.18069805A>C GRCh38
NC_000008.10:g.17927314A>C , CM000670.1:g.17927314A>C GRCh37
NC_000008.9:g.17971594A>C NCBI36
NG_008985.1:g.20194T>G
NG_008985.2:g.20194T>G

Transcript Alleles

HGVS Amino-acid Change
NM_177924.5:c.290T>G MANE Select NP_808592.2:p.Val97Gly
ENST00000637790.2:c.290T>G MANE Select ENSP00000490272.1:p.Val97Gly
NM_001127505.1:c.285+1495T>G NP_001120977.1:n.285+1495T>G
NM_001127505.2:c.285+1495T>G NP_001120977.1:n.285+1495T>G
NM_001127505.3:c.285+1495T>G NP_001120977.1:n.285+1495T>G
NM_001363743.1:c.95T>G NP_001350672.1:p.Val32Gly
NM_001363743.2:c.95T>G NP_001350672.1:p.Val32Gly
NM_004315.4:c.338T>G NP_004306.3:p.Val113Gly
NM_004315.5:c.338T>G NP_004306.3:p.Val113Gly
NM_004315.6:c.338T>G NP_004306.3:p.Val113Gly
NM_177924.3:c.290T>G NP_808592.2:p.Val97Gly
NM_177924.4:c.290T>G NP_808592.2:p.Val97Gly
ENST00000262097.10:c.290T>G ENSP00000262097.6:p.Val97Gly
ENST00000314146.10:c.285+1495T>G ENSP00000326970.10:n.285+1495T>G
ENST00000381733.8:c.338T>G ENSP00000371152.4:p.Val113Gly
ENST00000381733.9:c.338T>G ENSP00000371152.4:p.Val113Gly
ENST00000518087.6:n.338T>G
ENST00000518087.7:c.*126T>G ENSP00000490753.1:n.*126T>G
ENST00000519468.5:n.296T>G
ENST00000519545.5:n.304T>G
ENST00000519545.6:n.307T>G
ENST00000520781.5:c.290T>G ENSP00000427751.1:p.Val97Gly
ENST00000520781.6:c.290T>G ENSP00000427751.1:p.Val97Gly
ENST00000523593.5:n.157-2507T>G
ENST00000523593.6:c.*133T>G ENSP00000490700.1:n.*133T>G
ENST00000635769.1:c.311T>G ENSP00000490485.1:p.Val104Gly
ENST00000635944.1:c.*126T>G ENSP00000490195.1:n.*126T>G
ENST00000635998.1:c.290T>G ENSP00000490506.1:p.Val97Gly
ENST00000636009.1:c.222T>G ENSP00000489988.1:n.222T>G
ENST00000636033.1:c.*126T>G ENSP00000489617.1:n.*126T>G
ENST00000636050.1:c.*133T>G ENSP00000490562.1:n.*133T>G
ENST00000636128.1:c.290T>G ENSP00000489789.1:p.Val97Gly
ENST00000636160.1:c.*182T>G ENSP00000489651.1:n.*182T>G
ENST00000636171.1:c.290T>G ENSP00000489761.1:p.Val97Gly
ENST00000636269.1:c.95T>G ENSP00000490738.1:p.Val32Gly
ENST00000636299.1:c.*61T>G ENSP00000490202.1:n.*61T>G
ENST00000636435.1:n.374T>G
ENST00000636455.1:c.338T>G ENSP00000490502.1:p.Val113Gly
ENST00000636494.1:c.*70T>G ENSP00000490388.1:n.*70T>G
ENST00000636537.1:c.338T>G ENSP00000489914.1:p.Val113Gly
ENST00000636577.1:c.290T>G ENSP00000490027.1:p.Val97Gly
ENST00000636691.1:c.95T>G ENSP00000490725.1:p.Val32Gly
ENST00000636701.1:c.126-2507T>G ENSP00000489800.1:n.126-2507T>G
ENST00000636715.1:c.*70T>G ENSP00000490876.1:n.*70T>G
ENST00000636815.1:c.207T>G
ENST00000636823.1:c.95T>G ENSP00000490798.1:p.Val32Gly
ENST00000636828.1:n.466T>G
ENST00000636920.1:c.*126T>G ENSP00000490437.1:n.*126T>G
ENST00000636997.1:c.216+1495T>G ENSP00000490093.1:n.216+1495T>G
ENST00000637013.1:c.*502T>G ENSP00000490596.1:n.*502T>G
ENST00000637095.1:c.*70T>G ENSP00000490415.1:n.*70T>G
ENST00000637202.1:c.*70T>G ENSP00000490129.1:n.*70T>G
ENST00000637244.1:c.*808T>G ENSP00000490188.1:n.*808T>G
ENST00000637429.1:c.*502T>G ENSP00000490522.1:n.*502T>G
ENST00000637484.1:c.*327T>G ENSP00000490837.1:n.*327T>G
ENST00000637528.1:c.290T>G ENSP00000490801.1:p.Val97Gly
ENST00000637561.1:c.290T>G ENSP00000490536.1:p.Val97Gly
ENST00000637603.1:c.290T>G ENSP00000489979.1:p.Val97Gly
ENST00000637609.1:n.323T>G
ENST00000637636.1:c.284T>G ENSP00000490112.1:p.Val95Gly
ENST00000637638.1:c.290T>G ENSP00000490774.1:p.Val97Gly
ENST00000637718.1:c.95T>G ENSP00000490133.1:p.Val32Gly
ENST00000637792.1:c.332T>G ENSP00000490423.1:p.Val111Gly
ENST00000637805.1:c.*126T>G ENSP00000489884.1:n.*126T>G
ENST00000637857.1:n.12T>G
ENST00000637872.1:c.95T>G ENSP00000490432.1:p.Val32Gly
ENST00000637898.1:n.320T>G
ENST00000637922.1:c.95T>G ENSP00000490071.1:p.Val32Gly
ENST00000637991.1:c.338T>G ENSP00000489901.1:p.Val113Gly
ENST00000638069.1:n.346T>G
XM_005273504.2:c.224T>G XP_005273561.1:p.Val75Gly
XM_005273504.3:c.224T>G XP_005273561.1:p.Val75Gly