Canonical Allele Identifier: CA2003792301

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092786T= , CM000673.2:g.119092786T=	GRCh38
NC_000011.9:g.118963496T= , CM000673.1:g.118963496T=	GRCh37
NC_000011.8:g.118468706T=	NCBI36
NG_008093.1:g.12910T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.635T=	ENSP00000509288.1:p.Val212=
ENST00000691144.1:n.3015T=
ENST00000691249.1:n.1624T=
ENST00000442944.7:c.782T=	ENSP00000392041.3:p.Val261=
ENST00000640813.1:c.*37T=	ENSP00000491061.1:n.*37T=
ENST00000648026.1:c.694T=	ENSP00000498044.1:n.694T=
ENST00000648374.1:c.749T=	ENSP00000497255.1:p.Val250=
ENST00000649823.1:n.1257T=
ENST00000650101.1:c.731T=	ENSP00000496970.1:p.Val244=
ENST00000650307.1:n.1626T=
ENST00000652429.1:c.800T= MANE Select	ENSP00000498786.1:p.Val267=
ENST00000278715.7:c.800T=	ENSP00000278715.3:p.Val267=
ENST00000392841.1:c.749T=	ENSP00000376584.1:p.Val250=
ENST00000442944.6:c.749T=	ENSP00000392041.2:p.Val250=
ENST00000537841.5:c.749T=	ENSP00000444730.1:p.Val250=
ENST00000539045.1:n.176T=
ENST00000542044.5:n.1245T=
ENST00000542729.5:c.629T=	ENSP00000443058.1:p.Val210=
ENST00000543090.5:c.707T=	ENSP00000445429.1:p.Val236=
ENST00000543543.5:n.1275T=
ENST00000544182.1:n.1249T=
ENST00000544387.5:c.680T=	ENSP00000438424.1:p.Val227=
ENST00000546226.5:n.1562T=
NM_000190.3:c.800T=	NP_000181.2:p.Val267=
NM_001024382.1:c.749T=	NP_001019553.1:p.Val250=
NM_001258208.1:c.680T=	NP_001245137.1:p.Val227=
NM_001258209.1:c.629T=	NP_001245138.1:p.Val210=
XM_005271531.1:c.749T=	XP_005271588.1:p.Val250=
XM_005271532.1:c.749T=	XP_005271589.1:p.Val250=
XM_005271533.2:c.746T=	XP_005271590.1:p.Val249=
XM_011542796.1:c.635T=	XP_011541098.1:p.Val212=
NM_000190.4:c.800T= MANE Select	NP_000181.2:p.Val267=
NM_001024382.2:c.749T=	NP_001019553.1:p.Val250=
XM_005271533.3:c.746T=	XP_005271590.1:p.Val249=
XM_017017629.1:c.749T=	XP_016873118.1:p.Val250=
XM_024448460.1:c.626T=	XP_024304228.1:p.Val209=
NM_001258208.2:c.680T=	NP_001245137.1:p.Val227=
NM_001258209.2:c.629T=	NP_001245138.1:p.Val210=