Canonical Allele Identifier: CA477369311

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963882A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093172A>T , CM000673.2:g.119093172A>T	GRCh38
NC_000011.9:g.118963882A>T , CM000673.1:g.118963882A>T	GRCh37
NC_000011.8:g.118469092A>T	NCBI36
NG_008093.1:g.13296A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.810A>T	ENSP00000509288.1:p.Arg270=
ENST00000691144.1:n.3190A>T
ENST00000691249.1:n.1799A>T
ENST00000442944.7:c.957A>T	ENSP00000392041.3:p.Arg319=
ENST00000640813.1:c.*212A>T	ENSP00000491061.1:n.*212A>T
ENST00000648026.1:c.869A>T	ENSP00000498044.1:n.869A>T
ENST00000648374.1:c.924A>T	ENSP00000497255.1:p.Arg308=
ENST00000650101.1:c.906A>T	ENSP00000496970.1:p.Arg302=
ENST00000650307.1:n.1801A>T
ENST00000652429.1:c.975A>T MANE Select	ENSP00000498786.1:p.Arg325=
ENST00000278715.7:c.975A>T	ENSP00000278715.3:p.Arg325=
ENST00000392841.1:c.924A>T	ENSP00000376584.1:p.Arg308=
ENST00000442944.6:c.924A>T	ENSP00000392041.2:p.Arg308=
ENST00000537841.5:c.924A>T	ENSP00000444730.1:p.Arg308=
ENST00000539045.1:n.474A>T
ENST00000542044.5:n.1420A>T
ENST00000542729.5:c.804A>T	ENSP00000443058.1:p.Arg268=
ENST00000543090.5:c.882A>T	ENSP00000445429.1:p.Arg294=
ENST00000543543.5:n.1450A>T
ENST00000544182.1:n.1424A>T
ENST00000544387.5:c.855A>T	ENSP00000438424.1:p.Arg285=
ENST00000546226.5:n.1737A>T
NM_000190.3:c.975A>T	NP_000181.2:p.Arg325=
NM_001024382.1:c.924A>T	NP_001019553.1:p.Arg308=
NM_001258208.1:c.855A>T	NP_001245137.1:p.Arg285=
NM_001258209.1:c.804A>T	NP_001245138.1:p.Arg268=
XM_005271531.1:c.924A>T	XP_005271588.1:p.Arg308=
XM_005271532.1:c.924A>T	XP_005271589.1:p.Arg308=
XM_005271533.2:c.921A>T	XP_005271590.1:p.Arg307=
XM_011542796.1:c.810A>T	XP_011541098.1:p.Arg270=
NM_000190.4:c.975A>T MANE Select	NP_000181.2:p.Arg325=
NM_001024382.2:c.924A>T	NP_001019553.1:p.Arg308=
XM_005271533.3:c.921A>T	XP_005271590.1:p.Arg307=
XM_017017629.1:c.924A>T	XP_016873118.1:p.Arg308=
XM_024448460.1:c.801A>T	XP_024304228.1:p.Arg267=
NM_001258208.2:c.855A>T	NP_001245137.1:p.Arg285=
NM_001258209.2:c.804A>T	NP_001245138.1:p.Arg268=