Canonical Allele Identifier: CA370426988
Community Standard Title: NM_177924.5(ASAH1):c.1085C>G (p.Pro362Arg)
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18058848G>C , CM000670.2:g.18058848G>C GRCh38
NC_000008.10:g.17916357G>C , CM000670.1:g.17916357G>C GRCh37
NC_000008.9:g.17960637G>C NCBI36
NG_008985.1:g.31151C>G
NG_008985.2:g.31151C>G

Transcript Alleles

HGVS Amino-acid Change
NM_177924.5:c.1085C>G MANE Select NP_808592.2:p.Pro362Arg
ENST00000637790.2:c.1085C>G MANE Select ENSP00000490272.1:p.Pro362Arg
NM_001127505.1:c.1067C>G NP_001120977.1:p.Pro356Arg
NM_001127505.2:c.1067C>G NP_001120977.1:p.Pro356Arg
NM_001127505.3:c.1067C>G NP_001120977.1:p.Pro356Arg
NM_001363743.1:c.890C>G NP_001350672.1:p.Pro297Arg
NM_001363743.2:c.890C>G NP_001350672.1:p.Pro297Arg
NM_004315.4:c.1133C>G NP_004306.3:p.Pro378Arg
NM_004315.5:c.1133C>G NP_004306.3:p.Pro378Arg
NM_004315.6:c.1133C>G NP_004306.3:p.Pro378Arg
NM_177924.3:c.1085C>G NP_808592.2:p.Pro362Arg
NM_177924.4:c.1085C>G NP_808592.2:p.Pro362Arg
ENST00000262097.10:c.1085C>G ENSP00000262097.6:p.Pro362Arg
ENST00000314146.10:c.1067C>G ENSP00000326970.10:p.Pro356Arg
ENST00000381733.8:c.1133C>G ENSP00000371152.4:p.Pro378Arg
ENST00000381733.9:c.1133C>G ENSP00000371152.4:p.Pro378Arg
ENST00000518746.2:n.2771C>G
ENST00000520781.5:c.1010C>G ENSP00000427751.1:p.Pro337Arg
ENST00000520781.6:c.1010C>G ENSP00000427751.1:p.Pro337Arg
ENST00000635756.1:c.498C>G
ENST00000635944.1:c.*921C>G ENSP00000490195.1:n.*921C>G
ENST00000635998.1:c.1085C>G ENSP00000490506.1:p.Pro362Arg
ENST00000636009.1:c.942C>G ENSP00000489988.1:n.942C>G
ENST00000636033.1:c.*921C>G ENSP00000489617.1:n.*921C>G
ENST00000636050.1:c.*928C>G ENSP00000490562.1:n.*928C>G
ENST00000636128.1:c.764C>G ENSP00000489789.1:p.Pro255Arg
ENST00000636160.1:c.*977C>G ENSP00000489651.1:n.*977C>G
ENST00000636171.1:c.1028C>G ENSP00000489761.1:p.Pro343Arg
ENST00000636455.1:c.1009C>G ENSP00000490502.1:p.Leu337Val
ENST00000636494.1:c.*865C>G ENSP00000490388.1:n.*865C>G
ENST00000636563.1:n.747C>G
ENST00000636577.1:c.1025C>G ENSP00000490027.1:p.Pro342Arg
ENST00000636691.1:c.890C>G ENSP00000490725.1:p.Pro297Arg
ENST00000636701.1:c.*736C>G ENSP00000489800.1:n.*736C>G
ENST00000636815.1:c.1002C>G
ENST00000636920.1:c.*921C>G ENSP00000490437.1:n.*921C>G
ENST00000636997.1:c.998C>G ENSP00000490093.1:p.Pro333Arg
ENST00000637013.1:c.*1453C>G ENSP00000490596.1:n.*1453C>G
ENST00000637014.1:n.1492C>G
ENST00000637095.1:c.*865C>G ENSP00000490415.1:n.*865C>G
ENST00000637244.1:c.*1603C>G ENSP00000490188.1:n.*1603C>G
ENST00000637343.1:n.2522C>G
ENST00000637429.1:c.*1297C>G ENSP00000490522.1:n.*1297C>G
ENST00000637484.1:c.*1047C>G ENSP00000490837.1:n.*1047C>G
ENST00000637528.1:c.1022C>G ENSP00000490801.1:p.Pro341Arg
ENST00000637609.1:n.3806C>G
ENST00000637636.1:c.1079C>G ENSP00000490112.1:p.Pro360Arg
ENST00000637752.1:n.316C>G
ENST00000637857.1:n.1451C>G
ENST00000637922.1:c.890C>G ENSP00000490071.1:p.Pro297Arg
ENST00000637991.1:c.1058C>G ENSP00000489901.1:p.Pro353Arg
ENST00000638028.1:n.1302C>G
ENST00000638069.1:n.1906C>G
XM_005273504.2:c.1019C>G XP_005273561.1:p.Pro340Arg
XM_005273504.3:c.1019C>G XP_005273561.1:p.Pro340Arg