Canonical Allele Identifier: CA2003780456

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119084889C= , CM000673.2:g.119084889C=	GRCh38
NC_000011.9:g.118955599C= , CM000673.1:g.118955599C=	GRCh37
NC_000011.8:g.118460809C=	NCBI36
NG_008093.1:g.5013C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.-145C=	ENSP00000392041.3:n.-145C=
ENST00000652429.1:c.-145C= MANE Select	ENSP00000498786.1:n.-145C=
ENST00000278715.7:c.-145C=	ENSP00000278715.3:n.-145C=
ENST00000536185.5:n.24C=
ENST00000536813.5:c.-145C=	ENSP00000438726.1:n.-145C=
ENST00000537841.5:c.-287C=	ENSP00000444730.1:n.-287C=
ENST00000542729.5:c.-287C=	ENSP00000443058.1:n.-287C=
ENST00000543821.5:n.2C=
ENST00000545621.5:c.-145C=	ENSP00000444849.1:n.-145C=
ENST00000545901.5:n.9C=
NM_000190.3:c.-145C=	NP_000181.2:n.-145C=
NM_001258208.1:c.-145C=	NP_001245137.1:n.-145C=
NM_001258209.1:c.-287C=	NP_001245138.1:n.-287C=
XM_005271532.1:c.-263C=	XP_005271589.1:n.-263C=
XM_005271533.2:c.-145C=	XP_005271590.1:n.-145C=
NM_000190.4:c.-145C= MANE Select	NP_000181.2:n.-145C=
XM_005271533.3:c.-145C=	XP_005271590.1:n.-145C=
XM_024448460.1:c.-145C=	XP_024304228.1:n.-145C=
NM_001258208.2:c.-145C=	NP_001245137.1:n.-145C=
NM_001258209.2:c.-287C=	NP_001245138.1:n.-287C=