Canonical Allele Identifier: CA2003792305

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092793A= , CM000673.2:g.119092793A=	GRCh38
NC_000011.9:g.118963503A= , CM000673.1:g.118963503A=	GRCh37
NC_000011.8:g.118468713A=	NCBI36
NG_008093.1:g.12917A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.642A=	ENSP00000509288.1:p.Thr214=
ENST00000691144.1:n.3022A=
ENST00000691249.1:n.1631A=
ENST00000442944.7:c.789A=	ENSP00000392041.3:p.Thr263=
ENST00000640813.1:c.*44A=	ENSP00000491061.1:n.*44A=
ENST00000648026.1:c.701A=	ENSP00000498044.1:n.701A=
ENST00000648374.1:c.756A=	ENSP00000497255.1:p.Thr252=
ENST00000649823.1:n.1264A=
ENST00000650101.1:c.738A=	ENSP00000496970.1:p.Thr246=
ENST00000650307.1:n.1633A=
ENST00000652429.1:c.807A= MANE Select	ENSP00000498786.1:p.Thr269=
ENST00000278715.7:c.807A=	ENSP00000278715.3:p.Thr269=
ENST00000392841.1:c.756A=	ENSP00000376584.1:p.Thr252=
ENST00000442944.6:c.756A=	ENSP00000392041.2:p.Thr252=
ENST00000537841.5:c.756A=	ENSP00000444730.1:p.Thr252=
ENST00000539045.1:n.183A=
ENST00000542044.5:n.1252A=
ENST00000542729.5:c.636A=	ENSP00000443058.1:p.Thr212=
ENST00000543090.5:c.714A=	ENSP00000445429.1:p.Thr238=
ENST00000543543.5:n.1282A=
ENST00000544182.1:n.1256A=
ENST00000544387.5:c.687A=	ENSP00000438424.1:p.Thr229=
ENST00000546226.5:n.1569A=
NM_000190.3:c.807A=	NP_000181.2:p.Thr269=
NM_001024382.1:c.756A=	NP_001019553.1:p.Thr252=
NM_001258208.1:c.687A=	NP_001245137.1:p.Thr229=
NM_001258209.1:c.636A=	NP_001245138.1:p.Thr212=
XM_005271531.1:c.756A=	XP_005271588.1:p.Thr252=
XM_005271532.1:c.756A=	XP_005271589.1:p.Thr252=
XM_005271533.2:c.753A=	XP_005271590.1:p.Thr251=
XM_011542796.1:c.642A=	XP_011541098.1:p.Thr214=
NM_000190.4:c.807A= MANE Select	NP_000181.2:p.Thr269=
NM_001024382.2:c.756A=	NP_001019553.1:p.Thr252=
XM_005271533.3:c.753A=	XP_005271590.1:p.Thr251=
XM_017017629.1:c.756A=	XP_016873118.1:p.Thr252=
XM_024448460.1:c.633A=	XP_024304228.1:p.Thr211=
NM_001258208.2:c.687A=	NP_001245137.1:p.Thr229=
NM_001258209.2:c.636A=	NP_001245138.1:p.Thr212=