Canonical Allele Identifier: CA2003793509

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093254G= , CM000673.2:g.119093254G=	GRCh38
NC_000011.9:g.118963964G= , CM000673.1:g.118963964G=	GRCh37
NC_000011.8:g.118469174G=	NCBI36
NG_008093.1:g.13378G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.892G=	ENSP00000509288.1:p.Val298=
ENST00000691144.1:n.3272G=
ENST00000691249.1:n.1881G=
ENST00000442944.7:c.1039G=	ENSP00000392041.3:p.Val347=
ENST00000640813.1:c.*294G=	ENSP00000491061.1:n.*294G=
ENST00000648026.1:c.951G=	ENSP00000498044.1:n.951G=
ENST00000648374.1:c.1006G=	ENSP00000497255.1:p.Val336=
ENST00000650101.1:c.988G=	ENSP00000496970.1:p.Val330=
ENST00000650307.1:n.1883G=
ENST00000652429.1:c.1057G= MANE Select	ENSP00000498786.1:p.Val353=
ENST00000278715.7:c.1057G=	ENSP00000278715.3:p.Val353=
ENST00000392841.1:c.1006G=	ENSP00000376584.1:p.Val336=
ENST00000442944.6:c.1006G=	ENSP00000392041.2:p.Val336=
ENST00000537841.5:c.1006G=	ENSP00000444730.1:p.Val336=
ENST00000539045.1:n.556G=
ENST00000542044.5:n.1502G=
ENST00000542729.5:c.886G=	ENSP00000443058.1:p.Val296=
ENST00000543090.5:c.964G=	ENSP00000445429.1:p.Val322=
ENST00000543543.5:n.1532G=
ENST00000544182.1:n.1506G=
ENST00000544387.5:c.937G=	ENSP00000438424.1:p.Val313=
ENST00000546226.5:n.1819G=
NM_000190.3:c.1057G=	NP_000181.2:p.Val353=
NM_001024382.1:c.1006G=	NP_001019553.1:p.Val336=
NM_001258208.1:c.937G=	NP_001245137.1:p.Val313=
NM_001258209.1:c.886G=	NP_001245138.1:p.Val296=
XM_005271531.1:c.1006G=	XP_005271588.1:p.Val336=
XM_005271532.1:c.1006G=	XP_005271589.1:p.Val336=
XM_005271533.2:c.1003G=	XP_005271590.1:p.Val335=
XM_011542796.1:c.892G=	XP_011541098.1:p.Val298=
NM_000190.4:c.1057G= MANE Select	NP_000181.2:p.Val353=
NM_001024382.2:c.1006G=	NP_001019553.1:p.Val336=
XM_005271533.3:c.1003G=	XP_005271590.1:p.Val335=
XM_017017629.1:c.1006G=	XP_016873118.1:p.Val336=
XM_024448460.1:c.883G=	XP_024304228.1:p.Val295=
NM_001258208.2:c.937G=	NP_001245137.1:p.Val313=
NM_001258209.2:c.886G=	NP_001245138.1:p.Val296=