Canonical Allele Identifier: CA2003792818

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092988G= , CM000673.2:g.119092988G=	GRCh38
NC_000011.9:g.118963698G= , CM000673.1:g.118963698G=	GRCh37
NC_000011.8:g.118468908G=	NCBI36
NG_008093.1:g.13112G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.714G=	ENSP00000509288.1:p.Glu238=
ENST00000691144.1:n.3094G=
ENST00000691249.1:n.1703G=
ENST00000442944.7:c.861G=	ENSP00000392041.3:p.Glu287=
ENST00000640813.1:c.*116G=	ENSP00000491061.1:n.*116G=
ENST00000648026.1:c.773G=	ENSP00000498044.1:n.773G=
ENST00000648374.1:c.828G=	ENSP00000497255.1:p.Glu276=
ENST00000650101.1:c.810G=	ENSP00000496970.1:p.Glu270=
ENST00000650307.1:n.1705G=
ENST00000652429.1:c.879G= MANE Select	ENSP00000498786.1:p.Glu293=
ENST00000278715.7:c.879G=	ENSP00000278715.3:p.Glu293=
ENST00000392841.1:c.828G=	ENSP00000376584.1:p.Glu276=
ENST00000442944.6:c.828G=	ENSP00000392041.2:p.Glu276=
ENST00000537841.5:c.828G=	ENSP00000444730.1:p.Glu276=
ENST00000539045.1:n.378G=
ENST00000542044.5:n.1324G=
ENST00000542729.5:c.708G=	ENSP00000443058.1:p.Glu236=
ENST00000543090.5:c.786G=	ENSP00000445429.1:p.Glu262=
ENST00000543543.5:n.1354G=
ENST00000544182.1:n.1328G=
ENST00000544387.5:c.759G=	ENSP00000438424.1:p.Glu253=
ENST00000546226.5:n.1641G=
NM_000190.3:c.879G=	NP_000181.2:p.Glu293=
NM_001024382.1:c.828G=	NP_001019553.1:p.Glu276=
NM_001258208.1:c.759G=	NP_001245137.1:p.Glu253=
NM_001258209.1:c.708G=	NP_001245138.1:p.Glu236=
XM_005271531.1:c.828G=	XP_005271588.1:p.Glu276=
XM_005271532.1:c.828G=	XP_005271589.1:p.Glu276=
XM_005271533.2:c.825G=	XP_005271590.1:p.Glu275=
XM_011542796.1:c.714G=	XP_011541098.1:p.Glu238=
NM_000190.4:c.879G= MANE Select	NP_000181.2:p.Glu293=
NM_001024382.2:c.828G=	NP_001019553.1:p.Glu276=
XM_005271533.3:c.825G=	XP_005271590.1:p.Glu275=
XM_017017629.1:c.828G=	XP_016873118.1:p.Glu276=
XM_024448460.1:c.705G=	XP_024304228.1:p.Glu235=
NM_001258208.2:c.759G=	NP_001245137.1:p.Glu253=
NM_001258209.2:c.708G=	NP_001245138.1:p.Glu236=