Canonical Allele Identifier: CA370431856
Gene: ASAH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18064528T>G , CM000670.2:g.18064528T>G GRCh38
NC_000008.10:g.17922037T>G , CM000670.1:g.17922037T>G GRCh37
NC_000008.9:g.17966317T>G NCBI36
NG_008985.1:g.25471A>C
NG_008985.2:g.25471A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381733.9:c.434A>C ENSP00000371152.4:p.Glu145Ala
ENST00000519545.6:n.403A>C
ENST00000520781.6:c.383-1298A>C ENSP00000427751.1:n.383-1298A>C
ENST00000523593.6:c.*229A>C ENSP00000490700.1:n.*229A>C
ENST00000523744.2:n.4144A>C
ENST00000635769.1:c.407A>C ENSP00000490485.1:p.Glu136Ala
ENST00000635944.1:c.*222A>C ENSP00000490195.1:n.*222A>C
ENST00000635998.1:c.386A>C ENSP00000490506.1:p.Glu129Ala
ENST00000636009.1:c.315-1298A>C ENSP00000489988.1:n.315-1298A>C
ENST00000636033.1:c.*222A>C ENSP00000489617.1:n.*222A>C
ENST00000636050.1:c.*229A>C ENSP00000490562.1:n.*229A>C
ENST00000636128.1:c.382+2692A>C ENSP00000489789.1:n.382+2692A>C
ENST00000636160.1:c.*278A>C ENSP00000489651.1:n.*278A>C
ENST00000636171.1:c.383-54A>C ENSP00000489761.1:n.383-54A>C
ENST00000636299.1:c.*157A>C ENSP00000490202.1:n.*157A>C
ENST00000636435.1:n.3158A>C
ENST00000636455.1:c.434A>C ENSP00000490502.1:p.Glu145Ala
ENST00000636494.1:c.*166A>C ENSP00000490388.1:n.*166A>C
ENST00000636563.1:n.48A>C
ENST00000636577.1:c.383-57A>C ENSP00000490027.1:n.383-57A>C
ENST00000636691.1:c.191A>C ENSP00000490725.1:p.Glu64Ala
ENST00000636701.1:c.*37A>C ENSP00000489800.1:n.*37A>C
ENST00000636815.1:c.303A>C
ENST00000636823.1:c.191A>C ENSP00000490798.1:p.Glu64Ala
ENST00000636828.1:n.3250A>C
ENST00000636920.1:c.*222A>C ENSP00000490437.1:n.*222A>C
ENST00000636997.1:c.299A>C ENSP00000490093.1:p.Glu100Ala
ENST00000637013.1:c.*598A>C ENSP00000490596.1:n.*598A>C
ENST00000637095.1:c.*166A>C ENSP00000490415.1:n.*166A>C
ENST00000637244.1:c.*904A>C ENSP00000490188.1:n.*904A>C
ENST00000637343.1:n.597A>C
ENST00000637429.1:c.*598A>C ENSP00000490522.1:n.*598A>C
ENST00000637484.1:c.*420-1298A>C ENSP00000490837.1:n.*420-1298A>C
ENST00000637528.1:c.383-60A>C ENSP00000490801.1:n.383-60A>C
ENST00000637603.1:c.356A>C ENSP00000489979.1:p.Glu119Ala
ENST00000637609.1:n.3107A>C
ENST00000637636.1:c.380A>C ENSP00000490112.1:p.Glu127Ala
ENST00000637638.1:c.386A>C ENSP00000490774.1:p.Glu129Ala
ENST00000637718.1:c.191A>C ENSP00000490133.1:p.Glu64Ala
ENST00000637790.2:c.386A>C MANE Select ENSP00000490272.1:p.Glu129Ala
ENST00000637857.1:n.105-2105A>C
ENST00000637922.1:c.191A>C ENSP00000490071.1:p.Glu64Ala
ENST00000637991.1:c.431-1298A>C ENSP00000489901.1:n.431-1298A>C
ENST00000638069.1:n.442A>C
ENST00000262097.10:c.386A>C ENSP00000262097.6:p.Glu129Ala
ENST00000314146.10:c.368A>C ENSP00000326970.10:p.Glu123Ala
ENST00000381733.8:c.434A>C ENSP00000371152.4:p.Glu145Ala
ENST00000519468.5:n.389-2161A>C
ENST00000519545.5:n.400A>C
ENST00000520781.5:c.383-1298A>C ENSP00000427751.1:n.383-1298A>C
ENST00000523593.5:n.239A>C
ENST00000523744.1:n.389A>C
NM_001127505.1:c.368A>C NP_001120977.1:p.Glu123Ala
NM_001127505.2:c.368A>C NP_001120977.1:p.Glu123Ala
NM_004315.4:c.434A>C NP_004306.3:p.Glu145Ala
NM_004315.5:c.434A>C NP_004306.3:p.Glu145Ala
NM_177924.3:c.386A>C NP_808592.2:p.Glu129Ala
NM_177924.4:c.386A>C NP_808592.2:p.Glu129Ala
XM_005273504.2:c.320A>C XP_005273561.1:p.Glu107Ala
NM_001363743.1:c.191A>C NP_001350672.1:p.Glu64Ala
XM_005273504.3:c.320A>C XP_005273561.1:p.Glu107Ala
NM_177924.5:c.386A>C MANE Select NP_808592.2:p.Glu129Ala
NM_001127505.3:c.368A>C NP_001120977.1:p.Glu123Ala
NM_001363743.2:c.191A>C NP_001350672.1:p.Glu64Ala
NM_004315.6:c.434A>C NP_004306.3:p.Glu145Ala