Canonical Allele Identifier: CA2003780471

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119084912T= , CM000673.2:g.119084912T=	GRCh38
NC_000011.9:g.118955622T= , CM000673.1:g.118955622T=	GRCh37
NC_000011.8:g.118460832T=	NCBI36
NG_008093.1:g.5036T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.-122T=	ENSP00000392041.3:n.-122T=
ENST00000536813.6:c.-256T=	ENSP00000438726.2:n.-256T=
ENST00000546302.6:c.-122T=	ENSP00000445599.1:n.-122T=
ENST00000640813.1:c.-173T=	ENSP00000491061.1:n.-173T=
ENST00000652429.1:c.-122T= MANE Select	ENSP00000498786.1:n.-122T=
ENST00000278715.7:c.-122T=	ENSP00000278715.3:n.-122T=
ENST00000442944.6:c.-256T=	ENSP00000392041.2:n.-256T=
ENST00000536185.5:n.47T=
ENST00000536813.5:c.-122T=	ENSP00000438726.1:n.-122T=
ENST00000537841.5:c.-264T=	ENSP00000444730.1:n.-264T=
ENST00000542044.5:n.4T=
ENST00000542729.5:c.-264T=	ENSP00000443058.1:n.-264T=
ENST00000542822.5:c.-122T=	ENSP00000444817.1:n.-122T=
ENST00000543821.5:n.25T=
ENST00000545621.5:c.-122T=	ENSP00000444849.1:n.-122T=
ENST00000545901.5:n.32T=
ENST00000546302.5:c.-122T=	ENSP00000445599.1:n.-122T=
NM_000190.3:c.-122T=	NP_000181.2:n.-122T=
NM_001258208.1:c.-122T=	NP_001245137.1:n.-122T=
NM_001258209.1:c.-264T=	NP_001245138.1:n.-264T=
XM_005271531.1:c.-264T=	XP_005271588.1:n.-264T=
XM_005271532.1:c.-240T=	XP_005271589.1:n.-240T=
XM_005271533.2:c.-122T=	XP_005271590.1:n.-122T=
NM_000190.4:c.-122T= MANE Select	NP_000181.2:n.-122T=
XM_005271533.3:c.-122T=	XP_005271590.1:n.-122T=
XM_024448460.1:c.-122T=	XP_024304228.1:n.-122T=
NM_001258208.2:c.-122T=	NP_001245137.1:n.-122T=
NM_001258209.2:c.-264T=	NP_001245138.1:n.-264T=