Canonical Allele Identifier: CA2003792242

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092765G= , CM000673.2:g.119092765G=	GRCh38
NC_000011.9:g.118963475G= , CM000673.1:g.118963475G=	GRCh37
NC_000011.8:g.118468685G=	NCBI36
NG_008093.1:g.12889G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.614G=	ENSP00000509288.1:p.Gly205=
ENST00000691144.1:n.2994G=
ENST00000691249.1:n.1603G=
ENST00000442944.7:c.761G=	ENSP00000392041.3:p.Gly254=
ENST00000640813.1:c.*16G=	ENSP00000491061.1:n.*16G=
ENST00000648026.1:c.673G=	ENSP00000498044.1:n.673G=
ENST00000648374.1:c.728G=	ENSP00000497255.1:p.Gly243=
ENST00000649823.1:n.1236G=
ENST00000650101.1:c.710G=	ENSP00000496970.1:p.Gly237=
ENST00000650307.1:n.1605G=
ENST00000652429.1:c.779G= MANE Select	ENSP00000498786.1:p.Gly260=
ENST00000278715.7:c.779G=	ENSP00000278715.3:p.Gly260=
ENST00000392841.1:c.728G=	ENSP00000376584.1:p.Gly243=
ENST00000442944.6:c.728G=	ENSP00000392041.2:p.Gly243=
ENST00000537841.5:c.728G=	ENSP00000444730.1:p.Gly243=
ENST00000539045.1:n.155G=
ENST00000542044.5:n.1224G=
ENST00000542729.5:c.608G=	ENSP00000443058.1:p.Gly203=
ENST00000543090.5:c.686G=	ENSP00000445429.1:p.Gly229=
ENST00000543543.5:n.1254G=
ENST00000544182.1:n.1228G=
ENST00000544387.5:c.659G=	ENSP00000438424.1:p.Gly220=
ENST00000546226.5:n.1541G=
NM_000190.3:c.779G=	NP_000181.2:p.Gly260=
NM_001024382.1:c.728G=	NP_001019553.1:p.Gly243=
NM_001258208.1:c.659G=	NP_001245137.1:p.Gly220=
NM_001258209.1:c.608G=	NP_001245138.1:p.Gly203=
XM_005271531.1:c.728G=	XP_005271588.1:p.Gly243=
XM_005271532.1:c.728G=	XP_005271589.1:p.Gly243=
XM_005271533.2:c.725G=	XP_005271590.1:p.Gly242=
XM_011542796.1:c.614G=	XP_011541098.1:p.Gly205=
NM_000190.4:c.779G= MANE Select	NP_000181.2:p.Gly260=
NM_001024382.2:c.728G=	NP_001019553.1:p.Gly243=
XM_005271533.3:c.725G=	XP_005271590.1:p.Gly242=
XM_017017629.1:c.728G=	XP_016873118.1:p.Gly243=
XM_024448460.1:c.605G=	XP_024304228.1:p.Gly202=
NM_001258208.2:c.659G=	NP_001245137.1:p.Gly220=
NM_001258209.2:c.608G=	NP_001245138.1:p.Gly203=