Canonical Allele Identifier: CA4650494
Community Standard Title: NM_177924.5(ASAH1):c.1157G>A (p.Arg386Gln)
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18057565C>T , CM000670.2:g.18057565C>T GRCh38
NC_000008.10:g.17915074C>T , CM000670.1:g.17915074C>T GRCh37
NC_000008.9:g.17959354C>T NCBI36
NG_008985.1:g.32434G>A
NG_008985.2:g.32434G>A

Transcript Alleles

HGVS Amino-acid Change
NM_177924.5:c.1157G>A MANE Select NP_808592.2:p.Arg386Gln
ENST00000637790.2:c.1157G>A MANE Select ENSP00000490272.1:p.Arg386Gln
NM_001127505.1:c.1139G>A NP_001120977.1:p.Arg380Gln
NM_001127505.2:c.1139G>A NP_001120977.1:p.Arg380Gln
NM_001127505.3:c.1139G>A NP_001120977.1:p.Arg380Gln
NM_001363743.1:c.962G>A NP_001350672.1:p.Arg321Gln
NM_001363743.2:c.962G>A NP_001350672.1:p.Arg321Gln
NM_004315.4:c.1205G>A NP_004306.3:p.Arg402Gln
NM_004315.5:c.1205G>A NP_004306.3:p.Arg402Gln
NM_004315.6:c.1205G>A NP_004306.3:p.Arg402Gln
NM_177924.3:c.1157G>A NP_808592.2:p.Arg386Gln
NM_177924.4:c.1157G>A NP_808592.2:p.Arg386Gln
ENST00000262097.10:c.1157G>A ENSP00000262097.6:p.Arg386Gln
ENST00000314146.10:c.1139G>A ENSP00000326970.10:p.Arg380Gln
ENST00000381733.8:c.1205G>A ENSP00000371152.4:p.Arg402Gln
ENST00000381733.9:c.1205G>A ENSP00000371152.4:p.Arg402Gln
ENST00000518746.2:n.2843G>A
ENST00000520781.5:c.1082G>A ENSP00000427751.1:p.Arg361Gln
ENST00000520781.6:c.1082G>A ENSP00000427751.1:p.Arg361Gln
ENST00000635756.1:c.570G>A
ENST00000635944.1:c.*993G>A ENSP00000490195.1:n.*993G>A
ENST00000635998.1:c.1157G>A ENSP00000490506.1:p.Arg386Gln
ENST00000636009.1:c.1014G>A ENSP00000489988.1:n.1014G>A
ENST00000636033.1:c.*993G>A ENSP00000489617.1:n.*993G>A
ENST00000636050.1:c.*1000G>A ENSP00000490562.1:n.*1000G>A
ENST00000636128.1:c.836G>A ENSP00000489789.1:p.Arg279Gln
ENST00000636160.1:c.*1049G>A ENSP00000489651.1:n.*1049G>A
ENST00000636171.1:c.1100G>A ENSP00000489761.1:p.Arg367Gln
ENST00000636455.1:c.*55G>A ENSP00000490502.1:n.*55G>A
ENST00000636494.1:c.*937G>A ENSP00000490388.1:n.*937G>A
ENST00000636563.1:n.819G>A
ENST00000636577.1:c.1097G>A ENSP00000490027.1:p.Arg366Gln
ENST00000636691.1:c.962G>A ENSP00000490725.1:p.Arg321Gln
ENST00000636701.1:c.*808G>A ENSP00000489800.1:n.*808G>A
ENST00000636815.1:c.1074G>A
ENST00000636920.1:c.*993G>A ENSP00000490437.1:n.*993G>A
ENST00000636997.1:c.1070G>A ENSP00000490093.1:p.Arg357Gln
ENST00000637013.1:c.*1525G>A ENSP00000490596.1:n.*1525G>A
ENST00000637014.1:n.1564G>A
ENST00000637095.1:c.*937G>A ENSP00000490415.1:n.*937G>A
ENST00000637244.1:c.*1675G>A ENSP00000490188.1:n.*1675G>A
ENST00000637343.1:n.2594G>A
ENST00000637429.1:c.*1369G>A ENSP00000490522.1:n.*1369G>A
ENST00000637484.1:c.*1119G>A ENSP00000490837.1:n.*1119G>A
ENST00000637528.1:c.1094G>A ENSP00000490801.1:p.Arg365Gln
ENST00000637609.1:n.3878G>A
ENST00000637636.1:c.1151G>A ENSP00000490112.1:p.Arg384Gln
ENST00000637752.1:n.1599G>A
ENST00000637857.1:n.1523G>A
ENST00000637922.1:c.962G>A ENSP00000490071.1:p.Arg321Gln
ENST00000637991.1:c.1130G>A ENSP00000489901.1:p.Arg377Gln
ENST00000638028.1:n.1374G>A
ENST00000638069.1:n.1978G>A
XM_005273504.2:c.1091G>A XP_005273561.1:p.Arg364Gln
XM_005273504.3:c.1091G>A XP_005273561.1:p.Arg364Gln