Canonical Allele Identifier: CA2003791661

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092479A= , CM000673.2:g.119092479A=	GRCh38
NC_000011.9:g.118963189A= , CM000673.1:g.118963189A=	GRCh37
NC_000011.8:g.118468399A=	NCBI36
NG_008093.1:g.12603A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.562A=	ENSP00000509288.1:p.Thr188=
ENST00000691144.1:n.2708A=
ENST00000691249.1:n.1551A=
ENST00000442944.7:c.709A=	ENSP00000392041.3:p.Thr237=
ENST00000536813.6:c.676A=	ENSP00000438726.2:p.Thr226=
ENST00000640813.1:c.537A=	ENSP00000491061.1:p.Arg179=
ENST00000648026.1:c.621A=	ENSP00000498044.1:p.Arg207=
ENST00000648374.1:c.676A=	ENSP00000497255.1:p.Thr226=
ENST00000649823.1:n.1184A=
ENST00000650101.1:c.658A=	ENSP00000496970.1:p.Thr220=
ENST00000650307.1:n.1553A=
ENST00000652429.1:c.727A= MANE Select	ENSP00000498786.1:p.Thr243=
ENST00000278715.7:c.727A=	ENSP00000278715.3:p.Thr243=
ENST00000392841.1:c.676A=	ENSP00000376584.1:p.Thr226=
ENST00000442944.6:c.676A=	ENSP00000392041.2:p.Thr226=
ENST00000537841.5:c.676A=	ENSP00000444730.1:p.Thr226=
ENST00000542044.5:n.1172A=
ENST00000542729.5:c.601-279A=	ENSP00000443058.1:n.601-279A=
ENST00000543090.5:c.634A=	ENSP00000445429.1:p.Thr212=
ENST00000543543.5:n.1202A=
ENST00000544182.1:n.942A=
ENST00000544387.5:c.652-279A=	ENSP00000438424.1:n.652-279A=
ENST00000545621.5:c.*862A=	ENSP00000444849.1:n.*862A=
ENST00000546226.5:n.1255A=
NM_000190.3:c.727A=	NP_000181.2:p.Thr243=
NM_001024382.1:c.676A=	NP_001019553.1:p.Thr226=
NM_001258208.1:c.652-279A=	NP_001245137.1:n.652-279A=
NM_001258209.1:c.601-279A=	NP_001245138.1:n.601-279A=
XM_005271531.1:c.676A=	XP_005271588.1:p.Thr226=
XM_005271532.1:c.676A=	XP_005271589.1:p.Thr226=
XM_005271533.2:c.673A=	XP_005271590.1:p.Thr225=
XM_011542796.1:c.562A=	XP_011541098.1:p.Thr188=
NM_000190.4:c.727A= MANE Select	NP_000181.2:p.Thr243=
NM_001024382.2:c.676A=	NP_001019553.1:p.Thr226=
XM_005271533.3:c.673A=	XP_005271590.1:p.Thr225=
XM_017017629.1:c.676A=	XP_016873118.1:p.Thr226=
XM_024448460.1:c.598-279A=	XP_024304228.1:n.598-279A=
NM_001258208.2:c.652-279A=	NP_001245137.1:n.652-279A=
NM_001258209.2:c.601-279A=	NP_001245138.1:n.601-279A=