Canonical Allele Identifier: CA370426995
Community Standard Title: NM_177924.5(ASAH1):c.1084C>G (p.Pro362Ala)
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18058849G>C , CM000670.2:g.18058849G>C GRCh38
NC_000008.10:g.17916358G>C , CM000670.1:g.17916358G>C GRCh37
NC_000008.9:g.17960638G>C NCBI36
NG_008985.1:g.31150C>G
NG_008985.2:g.31150C>G

Transcript Alleles

HGVS Amino-acid Change
NM_177924.5:c.1084C>G MANE Select NP_808592.2:p.Pro362Ala
ENST00000637790.2:c.1084C>G MANE Select ENSP00000490272.1:p.Pro362Ala
NM_001127505.1:c.1066C>G NP_001120977.1:p.Pro356Ala
NM_001127505.2:c.1066C>G NP_001120977.1:p.Pro356Ala
NM_001127505.3:c.1066C>G NP_001120977.1:p.Pro356Ala
NM_001363743.1:c.889C>G NP_001350672.1:p.Pro297Ala
NM_001363743.2:c.889C>G NP_001350672.1:p.Pro297Ala
NM_004315.4:c.1132C>G NP_004306.3:p.Pro378Ala
NM_004315.5:c.1132C>G NP_004306.3:p.Pro378Ala
NM_004315.6:c.1132C>G NP_004306.3:p.Pro378Ala
NM_177924.3:c.1084C>G NP_808592.2:p.Pro362Ala
NM_177924.4:c.1084C>G NP_808592.2:p.Pro362Ala
ENST00000262097.10:c.1084C>G ENSP00000262097.6:p.Pro362Ala
ENST00000314146.10:c.1066C>G ENSP00000326970.10:p.Pro356Ala
ENST00000381733.8:c.1132C>G ENSP00000371152.4:p.Pro378Ala
ENST00000381733.9:c.1132C>G ENSP00000371152.4:p.Pro378Ala
ENST00000518746.2:n.2770C>G
ENST00000520781.5:c.1009C>G ENSP00000427751.1:p.Pro337Ala
ENST00000520781.6:c.1009C>G ENSP00000427751.1:p.Pro337Ala
ENST00000635756.1:c.497C>G
ENST00000635944.1:c.*920C>G ENSP00000490195.1:n.*920C>G
ENST00000635998.1:c.1084C>G ENSP00000490506.1:p.Pro362Ala
ENST00000636009.1:c.941C>G ENSP00000489988.1:n.941C>G
ENST00000636033.1:c.*920C>G ENSP00000489617.1:n.*920C>G
ENST00000636050.1:c.*927C>G ENSP00000490562.1:n.*927C>G
ENST00000636128.1:c.763C>G ENSP00000489789.1:p.Pro255Ala
ENST00000636160.1:c.*976C>G ENSP00000489651.1:n.*976C>G
ENST00000636171.1:c.1027C>G ENSP00000489761.1:p.Pro343Ala
ENST00000636455.1:c.1008C>G ENSP00000490502.1:p.Asn336Lys
ENST00000636494.1:c.*864C>G ENSP00000490388.1:n.*864C>G
ENST00000636563.1:n.746C>G
ENST00000636577.1:c.1024C>G ENSP00000490027.1:p.Pro342Ala
ENST00000636691.1:c.889C>G ENSP00000490725.1:p.Pro297Ala
ENST00000636701.1:c.*735C>G ENSP00000489800.1:n.*735C>G
ENST00000636815.1:c.1001C>G
ENST00000636920.1:c.*920C>G ENSP00000490437.1:n.*920C>G
ENST00000636997.1:c.997C>G ENSP00000490093.1:p.Pro333Ala
ENST00000637013.1:c.*1452C>G ENSP00000490596.1:n.*1452C>G
ENST00000637014.1:n.1491C>G
ENST00000637095.1:c.*864C>G ENSP00000490415.1:n.*864C>G
ENST00000637244.1:c.*1602C>G ENSP00000490188.1:n.*1602C>G
ENST00000637343.1:n.2521C>G
ENST00000637429.1:c.*1296C>G ENSP00000490522.1:n.*1296C>G
ENST00000637484.1:c.*1046C>G ENSP00000490837.1:n.*1046C>G
ENST00000637528.1:c.1021C>G ENSP00000490801.1:p.Pro341Ala
ENST00000637609.1:n.3805C>G
ENST00000637636.1:c.1078C>G ENSP00000490112.1:p.Pro360Ala
ENST00000637752.1:n.315C>G
ENST00000637857.1:n.1450C>G
ENST00000637922.1:c.889C>G ENSP00000490071.1:p.Pro297Ala
ENST00000637991.1:c.1057C>G ENSP00000489901.1:p.Pro353Ala
ENST00000638028.1:n.1301C>G
ENST00000638069.1:n.1905C>G
XM_005273504.2:c.1018C>G XP_005273561.1:p.Pro340Ala
XM_005273504.3:c.1018C>G XP_005273561.1:p.Pro340Ala