Canonical Allele Identifier: CA370427525
Community Standard Title: NM_177924.5(ASAH1):c.959A>G (p.Asn320Ser)
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18059423T>C , CM000670.2:g.18059423T>C GRCh38
NC_000008.10:g.17916932T>C , CM000670.1:g.17916932T>C GRCh37
NC_000008.9:g.17961212T>C NCBI36
NG_008985.1:g.30576A>G
NG_008985.2:g.30576A>G

Transcript Alleles

HGVS Amino-acid Change
NM_177924.5:c.959A>G MANE Select NP_808592.2:p.Asn320Ser
ENST00000637790.2:c.959A>G MANE Select ENSP00000490272.1:p.Asn320Ser
NM_001127505.1:c.941A>G NP_001120977.1:p.Asn314Ser
NM_001127505.2:c.941A>G NP_001120977.1:p.Asn314Ser
NM_001127505.3:c.941A>G NP_001120977.1:p.Asn314Ser
NM_001363743.1:c.764A>G NP_001350672.1:p.Asn255Ser
NM_001363743.2:c.764A>G NP_001350672.1:p.Asn255Ser
NM_004315.4:c.1007A>G NP_004306.3:p.Asn336Ser
NM_004315.5:c.1007A>G NP_004306.3:p.Asn336Ser
NM_004315.6:c.1007A>G NP_004306.3:p.Asn336Ser
NM_177924.3:c.959A>G NP_808592.2:p.Asn320Ser
NM_177924.4:c.959A>G NP_808592.2:p.Asn320Ser
ENST00000262097.10:c.959A>G ENSP00000262097.6:p.Asn320Ser
ENST00000314146.10:c.941A>G ENSP00000326970.10:p.Asn314Ser
ENST00000381733.8:c.1007A>G ENSP00000371152.4:p.Asn336Ser
ENST00000381733.9:c.1007A>G ENSP00000371152.4:p.Asn336Ser
ENST00000518746.2:n.2645A>G
ENST00000520781.5:c.884A>G ENSP00000427751.1:p.Asn295Ser
ENST00000520781.6:c.884A>G ENSP00000427751.1:p.Asn295Ser
ENST00000635756.1:c.372A>G
ENST00000635944.1:c.*795A>G ENSP00000490195.1:n.*795A>G
ENST00000635998.1:c.959A>G ENSP00000490506.1:p.Asn320Ser
ENST00000636009.1:c.816A>G ENSP00000489988.1:n.816A>G
ENST00000636033.1:c.*795A>G ENSP00000489617.1:n.*795A>G
ENST00000636050.1:c.*802A>G ENSP00000490562.1:n.*802A>G
ENST00000636128.1:c.638A>G ENSP00000489789.1:p.Asn213Ser
ENST00000636160.1:c.*851A>G ENSP00000489651.1:n.*851A>G
ENST00000636171.1:c.902A>G ENSP00000489761.1:p.Asn301Ser
ENST00000636455.1:c.965+149A>G ENSP00000490502.1:n.965+149A>G
ENST00000636494.1:c.*739A>G ENSP00000490388.1:n.*739A>G
ENST00000636563.1:n.621A>G
ENST00000636577.1:c.899A>G ENSP00000490027.1:p.Asn300Ser
ENST00000636691.1:c.764A>G ENSP00000490725.1:p.Asn255Ser
ENST00000636701.1:c.*610A>G ENSP00000489800.1:n.*610A>G
ENST00000636815.1:c.876A>G
ENST00000636920.1:c.*795A>G ENSP00000490437.1:n.*795A>G
ENST00000636997.1:c.872A>G ENSP00000490093.1:p.Asn291Ser
ENST00000637013.1:c.*1327A>G ENSP00000490596.1:n.*1327A>G
ENST00000637014.1:n.1366A>G
ENST00000637095.1:c.*739A>G ENSP00000490415.1:n.*739A>G
ENST00000637244.1:c.*1477A>G ENSP00000490188.1:n.*1477A>G
ENST00000637343.1:n.2396A>G
ENST00000637429.1:c.*1171A>G ENSP00000490522.1:n.*1171A>G
ENST00000637484.1:c.*921A>G ENSP00000490837.1:n.*921A>G
ENST00000637528.1:c.896A>G ENSP00000490801.1:p.Asn299Ser
ENST00000637609.1:n.3680A>G
ENST00000637636.1:c.953A>G ENSP00000490112.1:p.Asn318Ser
ENST00000637857.1:n.1325A>G
ENST00000637922.1:c.764A>G ENSP00000490071.1:p.Asn255Ser
ENST00000637991.1:c.932A>G ENSP00000489901.1:p.Asn311Ser
ENST00000638028.1:n.1176A>G
ENST00000638069.1:n.1780A>G
XM_005273504.2:c.893A>G XP_005273561.1:p.Asn298Ser
XM_005273504.3:c.893A>G XP_005273561.1:p.Asn298Ser