Canonical Allele Identifier: CA2003792758

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092968G= , CM000673.2:g.119092968G=	GRCh38
NC_000011.9:g.118963678G= , CM000673.1:g.118963678G=	GRCh37
NC_000011.8:g.118468888G=	NCBI36
NG_008093.1:g.13092G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.694G=	ENSP00000509288.1:p.Gly232=
ENST00000691144.1:n.3074G=
ENST00000691249.1:n.1683G=
ENST00000442944.7:c.841G=	ENSP00000392041.3:p.Gly281=
ENST00000640813.1:c.*96G=	ENSP00000491061.1:n.*96G=
ENST00000648026.1:c.753G=	ENSP00000498044.1:n.753G=
ENST00000648374.1:c.808G=	ENSP00000497255.1:p.Gly270=
ENST00000650101.1:c.790G=	ENSP00000496970.1:p.Gly264=
ENST00000650307.1:n.1685G=
ENST00000652429.1:c.859G= MANE Select	ENSP00000498786.1:p.Gly287=
ENST00000278715.7:c.859G=	ENSP00000278715.3:p.Gly287=
ENST00000392841.1:c.808G=	ENSP00000376584.1:p.Gly270=
ENST00000442944.6:c.808G=	ENSP00000392041.2:p.Gly270=
ENST00000537841.5:c.808G=	ENSP00000444730.1:p.Gly270=
ENST00000539045.1:n.358G=
ENST00000542044.5:n.1304G=
ENST00000542729.5:c.688G=	ENSP00000443058.1:p.Gly230=
ENST00000543090.5:c.766G=	ENSP00000445429.1:p.Gly256=
ENST00000543543.5:n.1334G=
ENST00000544182.1:n.1308G=
ENST00000544387.5:c.739G=	ENSP00000438424.1:p.Gly247=
ENST00000546226.5:n.1621G=
NM_000190.3:c.859G=	NP_000181.2:p.Gly287=
NM_001024382.1:c.808G=	NP_001019553.1:p.Gly270=
NM_001258208.1:c.739G=	NP_001245137.1:p.Gly247=
NM_001258209.1:c.688G=	NP_001245138.1:p.Gly230=
XM_005271531.1:c.808G=	XP_005271588.1:p.Gly270=
XM_005271532.1:c.808G=	XP_005271589.1:p.Gly270=
XM_005271533.2:c.805G=	XP_005271590.1:p.Gly269=
XM_011542796.1:c.694G=	XP_011541098.1:p.Gly232=
NM_000190.4:c.859G= MANE Select	NP_000181.2:p.Gly287=
NM_001024382.2:c.808G=	NP_001019553.1:p.Gly270=
XM_005271533.3:c.805G=	XP_005271590.1:p.Gly269=
XM_017017629.1:c.808G=	XP_016873118.1:p.Gly270=
XM_024448460.1:c.685G=	XP_024304228.1:p.Gly229=
NM_001258208.2:c.739G=	NP_001245137.1:p.Gly247=
NM_001258209.2:c.688G=	NP_001245138.1:p.Gly230=