Canonical Allele Identifier: CA2003793293

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093147G= , CM000673.2:g.119093147G=	GRCh38
NC_000011.9:g.118963857G= , CM000673.1:g.118963857G=	GRCh37
NC_000011.8:g.118469067G=	NCBI36
NG_008093.1:g.13271G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.785G=	ENSP00000509288.1:p.Gly262=
ENST00000691144.1:n.3165G=
ENST00000691249.1:n.1774G=
ENST00000442944.7:c.932G=	ENSP00000392041.3:p.Gly311=
ENST00000640813.1:c.*187G=	ENSP00000491061.1:n.*187G=
ENST00000648026.1:c.844G=	ENSP00000498044.1:n.844G=
ENST00000648374.1:c.899G=	ENSP00000497255.1:p.Gly300=
ENST00000650101.1:c.881G=	ENSP00000496970.1:p.Gly294=
ENST00000650307.1:n.1776G=
ENST00000652429.1:c.950G= MANE Select	ENSP00000498786.1:p.Gly317=
ENST00000278715.7:c.950G=	ENSP00000278715.3:p.Gly317=
ENST00000392841.1:c.899G=	ENSP00000376584.1:p.Gly300=
ENST00000442944.6:c.899G=	ENSP00000392041.2:p.Gly300=
ENST00000537841.5:c.899G=	ENSP00000444730.1:p.Gly300=
ENST00000539045.1:n.449G=
ENST00000542044.5:n.1395G=
ENST00000542729.5:c.779G=	ENSP00000443058.1:p.Gly260=
ENST00000543090.5:c.857G=	ENSP00000445429.1:p.Gly286=
ENST00000543543.5:n.1425G=
ENST00000544182.1:n.1399G=
ENST00000544387.5:c.830G=	ENSP00000438424.1:p.Gly277=
ENST00000546226.5:n.1712G=
NM_000190.3:c.950G=	NP_000181.2:p.Gly317=
NM_001024382.1:c.899G=	NP_001019553.1:p.Gly300=
NM_001258208.1:c.830G=	NP_001245137.1:p.Gly277=
NM_001258209.1:c.779G=	NP_001245138.1:p.Gly260=
XM_005271531.1:c.899G=	XP_005271588.1:p.Gly300=
XM_005271532.1:c.899G=	XP_005271589.1:p.Gly300=
XM_005271533.2:c.896G=	XP_005271590.1:p.Gly299=
XM_011542796.1:c.785G=	XP_011541098.1:p.Gly262=
NM_000190.4:c.950G= MANE Select	NP_000181.2:p.Gly317=
NM_001024382.2:c.899G=	NP_001019553.1:p.Gly300=
XM_005271533.3:c.896G=	XP_005271590.1:p.Gly299=
XM_017017629.1:c.899G=	XP_016873118.1:p.Gly300=
XM_024448460.1:c.776G=	XP_024304228.1:p.Gly259=
NM_001258208.2:c.830G=	NP_001245137.1:p.Gly277=
NM_001258209.2:c.779G=	NP_001245138.1:p.Gly260=