Canonical Allele Identifier: CA370426949
Community Standard Title: NM_177924.5(ASAH1):c.1096A>C (p.Lys366Gln)
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18058837T>G , CM000670.2:g.18058837T>G GRCh38
NC_000008.10:g.17916346T>G , CM000670.1:g.17916346T>G GRCh37
NC_000008.9:g.17960626T>G NCBI36
NG_008985.1:g.31162A>C
NG_008985.2:g.31162A>C

Transcript Alleles

HGVS Amino-acid Change
NM_177924.5:c.1096A>C MANE Select NP_808592.2:p.Lys366Gln
ENST00000637790.2:c.1096A>C MANE Select ENSP00000490272.1:p.Lys366Gln
NM_001127505.1:c.1078A>C NP_001120977.1:p.Lys360Gln
NM_001127505.2:c.1078A>C NP_001120977.1:p.Lys360Gln
NM_001127505.3:c.1078A>C NP_001120977.1:p.Lys360Gln
NM_001363743.1:c.901A>C NP_001350672.1:p.Lys301Gln
NM_001363743.2:c.901A>C NP_001350672.1:p.Lys301Gln
NM_004315.4:c.1144A>C NP_004306.3:p.Lys382Gln
NM_004315.5:c.1144A>C NP_004306.3:p.Lys382Gln
NM_004315.6:c.1144A>C NP_004306.3:p.Lys382Gln
NM_177924.3:c.1096A>C NP_808592.2:p.Lys366Gln
NM_177924.4:c.1096A>C NP_808592.2:p.Lys366Gln
ENST00000262097.10:c.1096A>C ENSP00000262097.6:p.Lys366Gln
ENST00000314146.10:c.1078A>C ENSP00000326970.10:p.Lys360Gln
ENST00000381733.8:c.1144A>C ENSP00000371152.4:p.Lys382Gln
ENST00000381733.9:c.1144A>C ENSP00000371152.4:p.Lys382Gln
ENST00000518746.2:n.2782A>C
ENST00000520781.5:c.1021A>C ENSP00000427751.1:p.Lys341Gln
ENST00000520781.6:c.1021A>C ENSP00000427751.1:p.Lys341Gln
ENST00000635756.1:c.509A>C
ENST00000635944.1:c.*932A>C ENSP00000490195.1:n.*932A>C
ENST00000635998.1:c.1096A>C ENSP00000490506.1:p.Lys366Gln
ENST00000636009.1:c.953A>C ENSP00000489988.1:n.953A>C
ENST00000636033.1:c.*932A>C ENSP00000489617.1:n.*932A>C
ENST00000636050.1:c.*939A>C ENSP00000490562.1:n.*939A>C
ENST00000636128.1:c.775A>C ENSP00000489789.1:p.Lys259Gln
ENST00000636160.1:c.*988A>C ENSP00000489651.1:n.*988A>C
ENST00000636171.1:c.1039A>C ENSP00000489761.1:p.Lys347Gln
ENST00000636455.1:c.1020A>C ENSP00000490502.1:p.Thr340=
ENST00000636494.1:c.*876A>C ENSP00000490388.1:n.*876A>C
ENST00000636563.1:n.758A>C
ENST00000636577.1:c.1036A>C ENSP00000490027.1:p.Lys346Gln
ENST00000636691.1:c.901A>C ENSP00000490725.1:p.Lys301Gln
ENST00000636701.1:c.*747A>C ENSP00000489800.1:n.*747A>C
ENST00000636815.1:c.1013A>C
ENST00000636920.1:c.*932A>C ENSP00000490437.1:n.*932A>C
ENST00000636997.1:c.1009A>C ENSP00000490093.1:p.Lys337Gln
ENST00000637013.1:c.*1464A>C ENSP00000490596.1:n.*1464A>C
ENST00000637014.1:n.1503A>C
ENST00000637095.1:c.*876A>C ENSP00000490415.1:n.*876A>C
ENST00000637244.1:c.*1614A>C ENSP00000490188.1:n.*1614A>C
ENST00000637343.1:n.2533A>C
ENST00000637429.1:c.*1308A>C ENSP00000490522.1:n.*1308A>C
ENST00000637484.1:c.*1058A>C ENSP00000490837.1:n.*1058A>C
ENST00000637528.1:c.1033A>C ENSP00000490801.1:p.Lys345Gln
ENST00000637609.1:n.3817A>C
ENST00000637636.1:c.1090A>C ENSP00000490112.1:p.Lys364Gln
ENST00000637752.1:n.327A>C
ENST00000637857.1:n.1462A>C
ENST00000637922.1:c.901A>C ENSP00000490071.1:p.Lys301Gln
ENST00000637991.1:c.1069A>C ENSP00000489901.1:p.Lys357Gln
ENST00000638028.1:n.1313A>C
ENST00000638069.1:n.1917A>C
XM_005273504.2:c.1030A>C XP_005273561.1:p.Lys344Gln
XM_005273504.3:c.1030A>C XP_005273561.1:p.Lys344Gln