Canonical Allele Identifier: CA382898694
Gene: HMBS HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092947G>A , CM000673.2:g.119092947G>A GRCh38
NC_000011.9:g.118963657G>A , CM000673.1:g.118963657G>A GRCh37
NC_000011.8:g.118468867G>A NCBI36
NG_008093.1:g.13071G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.673G>A ENSP00000509288.1:p.Gly225Arg
ENST00000691144.1:n.3053G>A
ENST00000691249.1:n.1662G>A
ENST00000442944.7:c.820G>A ENSP00000392041.3:p.Gly274Arg
ENST00000640813.1:c.*75G>A ENSP00000491061.1:n.*75G>A
ENST00000648026.1:c.732G>A ENSP00000498044.1:n.732G>A
ENST00000648374.1:c.787G>A ENSP00000497255.1:p.Gly263Arg
ENST00000649823.1:n.1295G>A
ENST00000650101.1:c.769G>A ENSP00000496970.1:p.Gly257Arg
ENST00000650307.1:n.1664G>A
ENST00000652429.1:c.838G>A MANE Select ENSP00000498786.1:p.Gly280Arg
ENST00000278715.7:c.838G>A ENSP00000278715.3:p.Gly280Arg
ENST00000392841.1:c.787G>A ENSP00000376584.1:p.Gly263Arg
ENST00000442944.6:c.787G>A ENSP00000392041.2:p.Gly263Arg
ENST00000537841.5:c.787G>A ENSP00000444730.1:p.Gly263Arg
ENST00000539045.1:n.337G>A
ENST00000542044.5:n.1283G>A
ENST00000542729.5:c.667G>A ENSP00000443058.1:p.Gly223Arg
ENST00000543090.5:c.745G>A ENSP00000445429.1:p.Gly249Arg
ENST00000543543.5:n.1313G>A
ENST00000544182.1:n.1287G>A
ENST00000544387.5:c.718G>A ENSP00000438424.1:p.Gly240Arg
ENST00000546226.5:n.1600G>A
NM_000190.3:c.838G>A NP_000181.2:p.Gly280Arg
NM_001024382.1:c.787G>A NP_001019553.1:p.Gly263Arg
NM_001258208.1:c.718G>A NP_001245137.1:p.Gly240Arg
NM_001258209.1:c.667G>A NP_001245138.1:p.Gly223Arg
XM_005271531.1:c.787G>A XP_005271588.1:p.Gly263Arg
XM_005271532.1:c.787G>A XP_005271589.1:p.Gly263Arg
XM_005271533.2:c.784G>A XP_005271590.1:p.Gly262Arg
XM_011542796.1:c.673G>A XP_011541098.1:p.Gly225Arg
NM_000190.4:c.838G>A MANE Select NP_000181.2:p.Gly280Arg
NM_001024382.2:c.787G>A NP_001019553.1:p.Gly263Arg
XM_005271533.3:c.784G>A XP_005271590.1:p.Gly262Arg
XM_017017629.1:c.787G>A XP_016873118.1:p.Gly263Arg
XM_024448460.1:c.664G>A XP_024304228.1:p.Gly222Arg
NM_001258208.2:c.718G>A NP_001245137.1:p.Gly240Arg
NM_001258209.2:c.667G>A NP_001245138.1:p.Gly223Arg