Canonical Allele Identifier: CA2003792890

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093004A= , CM000673.2:g.119093004A=	GRCh38
NC_000011.9:g.118963714A= , CM000673.1:g.118963714A=	GRCh37
NC_000011.8:g.118468924A=	NCBI36
NG_008093.1:g.13128A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.730A=	ENSP00000509288.1:p.Ile244=
ENST00000691144.1:n.3110A=
ENST00000691249.1:n.1719A=
ENST00000442944.7:c.877A=	ENSP00000392041.3:p.Ile293=
ENST00000640813.1:c.*132A=	ENSP00000491061.1:n.*132A=
ENST00000648026.1:c.789A=	ENSP00000498044.1:n.789A=
ENST00000648374.1:c.844A=	ENSP00000497255.1:p.Ile282=
ENST00000650101.1:c.826A=	ENSP00000496970.1:p.Ile276=
ENST00000650307.1:n.1721A=
ENST00000652429.1:c.895A= MANE Select	ENSP00000498786.1:p.Ile299=
ENST00000278715.7:c.895A=	ENSP00000278715.3:p.Ile299=
ENST00000392841.1:c.844A=	ENSP00000376584.1:p.Ile282=
ENST00000442944.6:c.844A=	ENSP00000392041.2:p.Ile282=
ENST00000537841.5:c.844A=	ENSP00000444730.1:p.Ile282=
ENST00000539045.1:n.394A=
ENST00000542044.5:n.1340A=
ENST00000542729.5:c.724A=	ENSP00000443058.1:p.Ile242=
ENST00000543090.5:c.802A=	ENSP00000445429.1:p.Ile268=
ENST00000543543.5:n.1370A=
ENST00000544182.1:n.1344A=
ENST00000544387.5:c.775A=	ENSP00000438424.1:p.Ile259=
ENST00000546226.5:n.1657A=
NM_000190.3:c.895A=	NP_000181.2:p.Ile299=
NM_001024382.1:c.844A=	NP_001019553.1:p.Ile282=
NM_001258208.1:c.775A=	NP_001245137.1:p.Ile259=
NM_001258209.1:c.724A=	NP_001245138.1:p.Ile242=
XM_005271531.1:c.844A=	XP_005271588.1:p.Ile282=
XM_005271532.1:c.844A=	XP_005271589.1:p.Ile282=
XM_005271533.2:c.841A=	XP_005271590.1:p.Ile281=
XM_011542796.1:c.730A=	XP_011541098.1:p.Ile244=
NM_000190.4:c.895A= MANE Select	NP_000181.2:p.Ile299=
NM_001024382.2:c.844A=	NP_001019553.1:p.Ile282=
XM_005271533.3:c.841A=	XP_005271590.1:p.Ile281=
XM_017017629.1:c.844A=	XP_016873118.1:p.Ile282=
XM_024448460.1:c.721A=	XP_024304228.1:p.Ile241=
NM_001258208.2:c.775A=	NP_001245137.1:p.Ile259=
NM_001258209.2:c.724A=	NP_001245138.1:p.Ile242=