Canonical Allele Identifier: CA370431453
Community Standard Title: NM_177924.5(ASAH1):c.457G>C (p.Gly153Arg)
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18064457C>G , CM000670.2:g.18064457C>G GRCh38
NC_000008.10:g.17921966C>G , CM000670.1:g.17921966C>G GRCh37
NC_000008.9:g.17966246C>G NCBI36
NG_008985.1:g.25542G>C
NG_008985.2:g.25542G>C

Transcript Alleles

HGVS Amino-acid Change
NM_177924.5:c.457G>C MANE Select NP_808592.2:p.Gly153Arg
ENST00000637790.2:c.457G>C MANE Select ENSP00000490272.1:p.Gly153Arg
NM_001127505.1:c.439G>C NP_001120977.1:p.Gly147Arg
NM_001127505.2:c.439G>C NP_001120977.1:p.Gly147Arg
NM_001127505.3:c.439G>C NP_001120977.1:p.Gly147Arg
NM_001363743.1:c.262G>C NP_001350672.1:p.Gly88Arg
NM_001363743.2:c.262G>C NP_001350672.1:p.Gly88Arg
NM_004315.4:c.505G>C NP_004306.3:p.Gly169Arg
NM_004315.5:c.505G>C NP_004306.3:p.Gly169Arg
NM_004315.6:c.505G>C NP_004306.3:p.Gly169Arg
NM_177924.3:c.457G>C NP_808592.2:p.Gly153Arg
NM_177924.4:c.457G>C NP_808592.2:p.Gly153Arg
ENST00000262097.10:c.457G>C ENSP00000262097.6:p.Gly153Arg
ENST00000314146.10:c.439G>C ENSP00000326970.10:p.Gly147Arg
ENST00000381733.8:c.505G>C ENSP00000371152.4:p.Gly169Arg
ENST00000381733.9:c.505G>C ENSP00000371152.4:p.Gly169Arg
ENST00000519468.5:n.389-2090G>C
ENST00000519545.5:n.471G>C
ENST00000519545.6:n.474G>C
ENST00000520781.5:c.383-1227G>C ENSP00000427751.1:n.383-1227G>C
ENST00000520781.6:c.383-1227G>C ENSP00000427751.1:n.383-1227G>C
ENST00000523593.5:n.310G>C
ENST00000523593.6:c.*300G>C ENSP00000490700.1:n.*300G>C
ENST00000523744.1:n.460G>C
ENST00000523744.2:n.4215G>C
ENST00000635769.1:c.478G>C ENSP00000490485.1:p.Gly160Arg
ENST00000635944.1:c.*293G>C ENSP00000490195.1:n.*293G>C
ENST00000635998.1:c.457G>C ENSP00000490506.1:p.Gly153Arg
ENST00000636009.1:c.315-1227G>C ENSP00000489988.1:n.315-1227G>C
ENST00000636033.1:c.*293G>C ENSP00000489617.1:n.*293G>C
ENST00000636050.1:c.*300G>C ENSP00000490562.1:n.*300G>C
ENST00000636128.1:c.382+2763G>C ENSP00000489789.1:n.382+2763G>C
ENST00000636160.1:c.*349G>C ENSP00000489651.1:n.*349G>C
ENST00000636171.1:c.400G>C ENSP00000489761.1:p.Gly134Arg
ENST00000636299.1:c.*228G>C ENSP00000490202.1:n.*228G>C
ENST00000636435.1:n.3229G>C
ENST00000636455.1:c.505G>C ENSP00000490502.1:p.Gly169Arg
ENST00000636494.1:c.*237G>C ENSP00000490388.1:n.*237G>C
ENST00000636563.1:n.119G>C
ENST00000636577.1:c.397G>C ENSP00000490027.1:p.Gly133Arg
ENST00000636691.1:c.262G>C ENSP00000490725.1:p.Gly88Arg
ENST00000636701.1:c.*108G>C ENSP00000489800.1:n.*108G>C
ENST00000636815.1:c.374G>C
ENST00000636823.1:c.262G>C ENSP00000490798.1:p.Gly88Arg
ENST00000636828.1:n.3321G>C
ENST00000636920.1:c.*293G>C ENSP00000490437.1:n.*293G>C
ENST00000636997.1:c.370G>C ENSP00000490093.1:p.Gly124Arg
ENST00000637013.1:c.*669G>C ENSP00000490596.1:n.*669G>C
ENST00000637095.1:c.*237G>C ENSP00000490415.1:n.*237G>C
ENST00000637244.1:c.*975G>C ENSP00000490188.1:n.*975G>C
ENST00000637343.1:n.668G>C
ENST00000637429.1:c.*669G>C ENSP00000490522.1:n.*669G>C
ENST00000637484.1:c.*420-1227G>C ENSP00000490837.1:n.*420-1227G>C
ENST00000637528.1:c.394G>C ENSP00000490801.1:p.Gly132Arg
ENST00000637603.1:c.427G>C ENSP00000489979.1:p.Gly143Arg
ENST00000637609.1:n.3178G>C
ENST00000637636.1:c.451G>C ENSP00000490112.1:p.Gly151Arg
ENST00000637638.1:c.457G>C ENSP00000490774.1:p.Gly153Arg
ENST00000637718.1:c.262G>C ENSP00000490133.1:p.Gly88Arg
ENST00000637857.1:n.105-2034G>C
ENST00000637922.1:c.262G>C ENSP00000490071.1:p.Gly88Arg
ENST00000637991.1:c.431-1227G>C ENSP00000489901.1:n.431-1227G>C
ENST00000638069.1:n.513G>C
XM_005273504.2:c.391G>C XP_005273561.1:p.Gly131Arg
XM_005273504.3:c.391G>C XP_005273561.1:p.Gly131Arg