Canonical Allele Identifier: CA2003792780

Gene: HMBS

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092980A= , CM000673.2:g.119092980A=	GRCh38
NC_000011.9:g.118963690A= , CM000673.1:g.118963690A=	GRCh37
NC_000011.8:g.118468900A=	NCBI36
NG_008093.1:g.13104A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.706A=	ENSP00000509288.1:p.Ile236=
ENST00000691144.1:n.3086A=
ENST00000691249.1:n.1695A=
ENST00000442944.7:c.853A=	ENSP00000392041.3:p.Ile285=
ENST00000640813.1:c.*108A=	ENSP00000491061.1:n.*108A=
ENST00000648026.1:c.765A=	ENSP00000498044.1:n.765A=
ENST00000648374.1:c.820A=	ENSP00000497255.1:p.Ile274=
ENST00000650101.1:c.802A=	ENSP00000496970.1:p.Ile268=
ENST00000650307.1:n.1697A=
ENST00000652429.1:c.871A= MANE Select	ENSP00000498786.1:p.Ile291=
ENST00000278715.7:c.871A=	ENSP00000278715.3:p.Ile291=
ENST00000392841.1:c.820A=	ENSP00000376584.1:p.Ile274=
ENST00000442944.6:c.820A=	ENSP00000392041.2:p.Ile274=
ENST00000537841.5:c.820A=	ENSP00000444730.1:p.Ile274=
ENST00000539045.1:n.370A=
ENST00000542044.5:n.1316A=
ENST00000542729.5:c.700A=	ENSP00000443058.1:p.Ile234=
ENST00000543090.5:c.778A=	ENSP00000445429.1:p.Ile260=
ENST00000543543.5:n.1346A=
ENST00000544182.1:n.1320A=
ENST00000544387.5:c.751A=	ENSP00000438424.1:p.Ile251=
ENST00000546226.5:n.1633A=
NM_000190.3:c.871A=	NP_000181.2:p.Ile291=
NM_001024382.1:c.820A=	NP_001019553.1:p.Ile274=
NM_001258208.1:c.751A=	NP_001245137.1:p.Ile251=
NM_001258209.1:c.700A=	NP_001245138.1:p.Ile234=
XM_005271531.1:c.820A=	XP_005271588.1:p.Ile274=
XM_005271532.1:c.820A=	XP_005271589.1:p.Ile274=
XM_005271533.2:c.817A=	XP_005271590.1:p.Ile273=
XM_011542796.1:c.706A=	XP_011541098.1:p.Ile236=
NM_000190.4:c.871A= MANE Select	NP_000181.2:p.Ile291=
NM_001024382.2:c.820A=	NP_001019553.1:p.Ile274=
XM_005271533.3:c.817A=	XP_005271590.1:p.Ile273=
XM_017017629.1:c.820A=	XP_016873118.1:p.Ile274=
XM_024448460.1:c.697A=	XP_024304228.1:p.Ile233=
NM_001258208.2:c.751A=	NP_001245137.1:p.Ile251=
NM_001258209.2:c.700A=	NP_001245138.1:p.Ile234=