Canonical Allele Identifier: CA4650490

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18057547C>T , CM000670.2:g.18057547C>T	GRCh38
NC_000008.10:g.17915056C>T , CM000670.1:g.17915056C>T	GRCh37
NC_000008.9:g.17959336C>T	NCBI36
NG_008985.1:g.32452G>A
NG_008985.2:g.32452G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.1175G>A MANE Select	NP_808592.2:p.Cys392Tyr
ENST00000637790.2:c.1175G>A MANE Select	ENSP00000490272.1:p.Cys392Tyr
NM_001127505.1:c.1157G>A	NP_001120977.1:p.Cys386Tyr
NM_001127505.2:c.1157G>A	NP_001120977.1:p.Cys386Tyr
NM_001127505.3:c.1157G>A	NP_001120977.1:p.Cys386Tyr
NM_001363743.1:c.980G>A	NP_001350672.1:p.Cys327Tyr
NM_001363743.2:c.980G>A	NP_001350672.1:p.Cys327Tyr
NM_004315.4:c.1223G>A	NP_004306.3:p.Cys408Tyr
NM_004315.5:c.1223G>A	NP_004306.3:p.Cys408Tyr
NM_004315.6:c.1223G>A	NP_004306.3:p.Cys408Tyr
NM_177924.3:c.1175G>A	NP_808592.2:p.Cys392Tyr
NM_177924.4:c.1175G>A	NP_808592.2:p.Cys392Tyr
ENST00000262097.10:c.1175G>A	ENSP00000262097.6:p.Cys392Tyr
ENST00000314146.10:c.1157G>A	ENSP00000326970.10:p.Cys386Tyr
ENST00000381733.8:c.1223G>A	ENSP00000371152.4:p.Cys408Tyr
ENST00000381733.9:c.1223G>A	ENSP00000371152.4:p.Cys408Tyr
ENST00000518746.2:n.2861G>A
ENST00000520781.5:c.1100G>A	ENSP00000427751.1:p.Cys367Tyr
ENST00000520781.6:c.1100G>A	ENSP00000427751.1:p.Cys367Tyr
ENST00000635756.1:c.588G>A
ENST00000635944.1:c.*1011G>A	ENSP00000490195.1:n.*1011G>A
ENST00000635998.1:c.1175G>A	ENSP00000490506.1:p.Cys392Tyr
ENST00000636009.1:c.1032G>A	ENSP00000489988.1:n.1032G>A
ENST00000636033.1:c.*1011G>A	ENSP00000489617.1:n.*1011G>A
ENST00000636050.1:c.*1018G>A	ENSP00000490562.1:n.*1018G>A
ENST00000636128.1:c.854G>A	ENSP00000489789.1:p.Cys285Tyr
ENST00000636160.1:c.*1067G>A	ENSP00000489651.1:n.*1067G>A
ENST00000636171.1:c.1118G>A	ENSP00000489761.1:p.Cys373Tyr
ENST00000636455.1:c.*73G>A	ENSP00000490502.1:n.*73G>A
ENST00000636494.1:c.*955G>A	ENSP00000490388.1:n.*955G>A
ENST00000636563.1:n.837G>A
ENST00000636577.1:c.1115G>A	ENSP00000490027.1:p.Cys372Tyr
ENST00000636691.1:c.980G>A	ENSP00000490725.1:p.Cys327Tyr
ENST00000636701.1:c.*826G>A	ENSP00000489800.1:n.*826G>A
ENST00000636815.1:c.1092G>A
ENST00000636920.1:c.*1011G>A	ENSP00000490437.1:n.*1011G>A
ENST00000636997.1:c.1088G>A	ENSP00000490093.1:p.Cys363Tyr
ENST00000637013.1:c.*1543G>A	ENSP00000490596.1:n.*1543G>A
ENST00000637014.1:n.1582G>A
ENST00000637095.1:c.*955G>A	ENSP00000490415.1:n.*955G>A
ENST00000637244.1:c.*1693G>A	ENSP00000490188.1:n.*1693G>A
ENST00000637343.1:n.2612G>A
ENST00000637429.1:c.*1387G>A	ENSP00000490522.1:n.*1387G>A
ENST00000637484.1:c.*1137G>A	ENSP00000490837.1:n.*1137G>A
ENST00000637528.1:c.1112G>A	ENSP00000490801.1:p.Cys371Tyr
ENST00000637609.1:n.3896G>A
ENST00000637636.1:c.1169G>A	ENSP00000490112.1:p.Cys390Tyr
ENST00000637752.1:n.1617G>A
ENST00000637857.1:n.1541G>A
ENST00000637922.1:c.980G>A	ENSP00000490071.1:p.Cys327Tyr
ENST00000637991.1:c.1148G>A	ENSP00000489901.1:p.Cys383Tyr
ENST00000638028.1:n.1392G>A
ENST00000638069.1:n.1996G>A
XM_005273504.2:c.1109G>A	XP_005273561.1:p.Cys370Tyr
XM_005273504.3:c.1109G>A	XP_005273561.1:p.Cys370Tyr