Canonical Allele Identifier: CA2003792516

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092864C= , CM000673.2:g.119092864C=	GRCh38
NC_000011.9:g.118963574C= , CM000673.1:g.118963574C=	GRCh37
NC_000011.8:g.118468784C=	NCBI36
NG_008093.1:g.12988C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.660+53C=	ENSP00000509288.1:n.660+53C=
ENST00000691144.1:n.3040+53C=
ENST00000691249.1:n.1649+53C=
ENST00000442944.7:c.807+53C=	ENSP00000392041.3:n.807+53C=
ENST00000640813.1:c.*62+53C=	ENSP00000491061.1:n.*62+53C=
ENST00000648026.1:c.719+53C=	ENSP00000498044.1:n.719+53C=
ENST00000648374.1:c.774+53C=	ENSP00000497255.1:n.774+53C=
ENST00000649823.1:n.1282+53C=
ENST00000650101.1:c.756+53C=	ENSP00000496970.1:n.756+53C=
ENST00000650307.1:n.1651+53C=
ENST00000652429.1:c.825+53C= MANE Select	ENSP00000498786.1:n.825+53C=
ENST00000278715.7:c.825+53C=	ENSP00000278715.3:n.825+53C=
ENST00000392841.1:c.774+53C=	ENSP00000376584.1:n.774+53C=
ENST00000442944.6:c.774+53C=	ENSP00000392041.2:n.774+53C=
ENST00000537841.5:c.774+53C=	ENSP00000444730.1:n.774+53C=
ENST00000539045.1:n.254C=
ENST00000542044.5:n.1270+53C=
ENST00000542729.5:c.654+53C=	ENSP00000443058.1:n.654+53C=
ENST00000543090.5:c.732+53C=	ENSP00000445429.1:n.732+53C=
ENST00000543543.5:n.1300+53C=
ENST00000544182.1:n.1274+53C=
ENST00000544387.5:c.705+53C=	ENSP00000438424.1:n.705+53C=
ENST00000546226.5:n.1587+53C=
NM_000190.3:c.825+53C=	NP_000181.2:n.825+53C=
NM_001024382.1:c.774+53C=	NP_001019553.1:n.774+53C=
NM_001258208.1:c.705+53C=	NP_001245137.1:n.705+53C=
NM_001258209.1:c.654+53C=	NP_001245138.1:n.654+53C=
XM_005271531.1:c.774+53C=	XP_005271588.1:n.774+53C=
XM_005271532.1:c.774+53C=	XP_005271589.1:n.774+53C=
XM_005271533.2:c.771+53C=	XP_005271590.1:n.771+53C=
XM_011542796.1:c.660+53C=	XP_011541098.1:n.660+53C=
NM_000190.4:c.825+53C= MANE Select	NP_000181.2:n.825+53C=
NM_001024382.2:c.774+53C=	NP_001019553.1:n.774+53C=
XM_005271533.3:c.771+53C=	XP_005271590.1:n.771+53C=
XM_017017629.1:c.774+53C=	XP_016873118.1:n.774+53C=
XM_024448460.1:c.651+53C=	XP_024304228.1:n.651+53C=
NM_001258208.2:c.705+53C=	NP_001245137.1:n.705+53C=
NM_001258209.2:c.654+53C=	NP_001245138.1:n.654+53C=