Canonical Allele Identifier: CA370431631
Community Standard Title: NM_177924.5(ASAH1):c.427T>G (p.Cys143Gly)
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18064487A>C , CM000670.2:g.18064487A>C GRCh38
NC_000008.10:g.17921996A>C , CM000670.1:g.17921996A>C GRCh37
NC_000008.9:g.17966276A>C NCBI36
NG_008985.1:g.25512T>G
NG_008985.2:g.25512T>G

Transcript Alleles

HGVS Amino-acid Change
NM_177924.5:c.427T>G MANE Select NP_808592.2:p.Cys143Gly
ENST00000637790.2:c.427T>G MANE Select ENSP00000490272.1:p.Cys143Gly
NM_001127505.1:c.409T>G NP_001120977.1:p.Cys137Gly
NM_001127505.2:c.409T>G NP_001120977.1:p.Cys137Gly
NM_001127505.3:c.409T>G NP_001120977.1:p.Cys137Gly
NM_001363743.1:c.232T>G NP_001350672.1:p.Cys78Gly
NM_001363743.2:c.232T>G NP_001350672.1:p.Cys78Gly
NM_004315.4:c.475T>G NP_004306.3:p.Cys159Gly
NM_004315.5:c.475T>G NP_004306.3:p.Cys159Gly
NM_004315.6:c.475T>G NP_004306.3:p.Cys159Gly
NM_177924.3:c.427T>G NP_808592.2:p.Cys143Gly
NM_177924.4:c.427T>G NP_808592.2:p.Cys143Gly
ENST00000262097.10:c.427T>G ENSP00000262097.6:p.Cys143Gly
ENST00000314146.10:c.409T>G ENSP00000326970.10:p.Cys137Gly
ENST00000381733.8:c.475T>G ENSP00000371152.4:p.Cys159Gly
ENST00000381733.9:c.475T>G ENSP00000371152.4:p.Cys159Gly
ENST00000519468.5:n.389-2120T>G
ENST00000519545.5:n.441T>G
ENST00000519545.6:n.444T>G
ENST00000520781.5:c.383-1257T>G ENSP00000427751.1:n.383-1257T>G
ENST00000520781.6:c.383-1257T>G ENSP00000427751.1:n.383-1257T>G
ENST00000523593.5:n.280T>G
ENST00000523593.6:c.*270T>G ENSP00000490700.1:n.*270T>G
ENST00000523744.1:n.430T>G
ENST00000523744.2:n.4185T>G
ENST00000635769.1:c.448T>G ENSP00000490485.1:p.Cys150Gly
ENST00000635944.1:c.*263T>G ENSP00000490195.1:n.*263T>G
ENST00000635998.1:c.427T>G ENSP00000490506.1:p.Cys143Gly
ENST00000636009.1:c.315-1257T>G ENSP00000489988.1:n.315-1257T>G
ENST00000636033.1:c.*263T>G ENSP00000489617.1:n.*263T>G
ENST00000636050.1:c.*270T>G ENSP00000490562.1:n.*270T>G
ENST00000636128.1:c.382+2733T>G ENSP00000489789.1:n.382+2733T>G
ENST00000636160.1:c.*319T>G ENSP00000489651.1:n.*319T>G
ENST00000636171.1:c.383-13T>G ENSP00000489761.1:n.383-13T>G
ENST00000636299.1:c.*198T>G ENSP00000490202.1:n.*198T>G
ENST00000636435.1:n.3199T>G
ENST00000636455.1:c.475T>G ENSP00000490502.1:p.Cys159Gly
ENST00000636494.1:c.*207T>G ENSP00000490388.1:n.*207T>G
ENST00000636563.1:n.89T>G
ENST00000636577.1:c.383-16T>G ENSP00000490027.1:n.383-16T>G
ENST00000636691.1:c.232T>G ENSP00000490725.1:p.Cys78Gly
ENST00000636701.1:c.*78T>G ENSP00000489800.1:n.*78T>G
ENST00000636815.1:c.344T>G
ENST00000636823.1:c.232T>G ENSP00000490798.1:p.Cys78Gly
ENST00000636828.1:n.3291T>G
ENST00000636920.1:c.*263T>G ENSP00000490437.1:n.*263T>G
ENST00000636997.1:c.340T>G ENSP00000490093.1:p.Cys114Gly
ENST00000637013.1:c.*639T>G ENSP00000490596.1:n.*639T>G
ENST00000637095.1:c.*207T>G ENSP00000490415.1:n.*207T>G
ENST00000637244.1:c.*945T>G ENSP00000490188.1:n.*945T>G
ENST00000637343.1:n.638T>G
ENST00000637429.1:c.*639T>G ENSP00000490522.1:n.*639T>G
ENST00000637484.1:c.*420-1257T>G ENSP00000490837.1:n.*420-1257T>G
ENST00000637528.1:c.383-19T>G ENSP00000490801.1:n.383-19T>G
ENST00000637603.1:c.397T>G ENSP00000489979.1:p.Cys133Gly
ENST00000637609.1:n.3148T>G
ENST00000637636.1:c.421T>G ENSP00000490112.1:p.Cys141Gly
ENST00000637638.1:c.427T>G ENSP00000490774.1:p.Cys143Gly
ENST00000637718.1:c.232T>G ENSP00000490133.1:p.Cys78Gly
ENST00000637857.1:n.105-2064T>G
ENST00000637922.1:c.232T>G ENSP00000490071.1:p.Cys78Gly
ENST00000637991.1:c.431-1257T>G ENSP00000489901.1:n.431-1257T>G
ENST00000638069.1:n.483T>G
XM_005273504.2:c.361T>G XP_005273561.1:p.Cys121Gly
XM_005273504.3:c.361T>G XP_005273561.1:p.Cys121Gly