Canonical Allele Identifier: CA2003791513
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092425C= , CM000673.2:g.119092425C= GRCh38
NC_000011.9:g.118963135C= , CM000673.1:g.118963135C= GRCh37
NC_000011.8:g.118468345C= NCBI36
NG_008093.1:g.12549C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.508C= ENSP00000509288.1:p.Arg170=
ENST00000691144.1:n.2654C=
ENST00000691249.1:n.1497C=
ENST00000442944.7:c.655C= ENSP00000392041.3:p.Arg219=
ENST00000536813.6:c.622C= ENSP00000438726.2:p.Arg208=
ENST00000640813.1:c.483C= ENSP00000491061.1:p.Cys161=
ENST00000648026.1:c.567C= ENSP00000498044.1:p.Cys189=
ENST00000648374.1:c.622C= ENSP00000497255.1:p.Arg208=
ENST00000649823.1:n.1130C=
ENST00000650101.1:c.604C= ENSP00000496970.1:p.Arg202=
ENST00000650307.1:n.1499C=
ENST00000652429.1:c.673C= MANE Select ENSP00000498786.1:p.Arg225=
ENST00000278715.7:c.673C= ENSP00000278715.3:p.Arg225=
ENST00000392841.1:c.622C= ENSP00000376584.1:p.Arg208=
ENST00000442944.6:c.622C= ENSP00000392041.2:p.Arg208=
ENST00000537841.5:c.622C= ENSP00000444730.1:p.Arg208=
ENST00000542044.5:n.1118C=
ENST00000542729.5:c.600+262C= ENSP00000443058.1:n.600+262C=
ENST00000543090.5:c.580C= ENSP00000445429.1:p.Arg194=
ENST00000543543.5:n.1148C=
ENST00000544182.1:n.888C=
ENST00000544387.5:c.651+262C= ENSP00000438424.1:n.651+262C=
ENST00000545621.5:c.*808C= ENSP00000444849.1:n.*808C=
ENST00000546226.5:n.1201C=
NM_000190.3:c.673C= NP_000181.2:p.Arg225=
NM_001024382.1:c.622C= NP_001019553.1:p.Arg208=
NM_001258208.1:c.651+262C= NP_001245137.1:n.651+262C=
NM_001258209.1:c.600+262C= NP_001245138.1:n.600+262C=
XM_005271531.1:c.622C= XP_005271588.1:p.Arg208=
XM_005271532.1:c.622C= XP_005271589.1:p.Arg208=
XM_005271533.2:c.619C= XP_005271590.1:p.Arg207=
XM_011542796.1:c.508C= XP_011541098.1:p.Arg170=
NM_000190.4:c.673C= MANE Select NP_000181.2:p.Arg225=
NM_001024382.2:c.622C= NP_001019553.1:p.Arg208=
XM_005271533.3:c.619C= XP_005271590.1:p.Arg207=
XM_017017629.1:c.622C= XP_016873118.1:p.Arg208=
XM_024448460.1:c.597+262C= XP_024304228.1:n.597+262C=
NM_001258208.2:c.651+262C= NP_001245137.1:n.651+262C=
NM_001258209.2:c.600+262C= NP_001245138.1:n.600+262C=