Canonical Allele Identifier: CA382899446

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963881G>T (hg19) ; chr11:g.119093171G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093171G>T , CM000673.2:g.119093171G>T	GRCh38
NC_000011.9:g.118963881G>T , CM000673.1:g.118963881G>T	GRCh37
NC_000011.8:g.118469091G>T	NCBI36
NG_008093.1:g.13295G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.809G>T	ENSP00000509288.1:p.Arg270Leu
ENST00000691144.1:n.3189G>T
ENST00000691249.1:n.1798G>T
ENST00000442944.7:c.956G>T	ENSP00000392041.3:p.Arg319Leu
ENST00000640813.1:c.*211G>T	ENSP00000491061.1:n.*211G>T
ENST00000648026.1:c.868G>T	ENSP00000498044.1:n.868G>T
ENST00000648374.1:c.923G>T	ENSP00000497255.1:p.Arg308Leu
ENST00000650101.1:c.905G>T	ENSP00000496970.1:p.Arg302Leu
ENST00000650307.1:n.1800G>T
ENST00000652429.1:c.974G>T MANE Select	ENSP00000498786.1:p.Arg325Leu
ENST00000278715.7:c.974G>T	ENSP00000278715.3:p.Arg325Leu
ENST00000392841.1:c.923G>T	ENSP00000376584.1:p.Arg308Leu
ENST00000442944.6:c.923G>T	ENSP00000392041.2:p.Arg308Leu
ENST00000537841.5:c.923G>T	ENSP00000444730.1:p.Arg308Leu
ENST00000539045.1:n.473G>T
ENST00000542044.5:n.1419G>T
ENST00000542729.5:c.803G>T	ENSP00000443058.1:p.Arg268Leu
ENST00000543090.5:c.881G>T	ENSP00000445429.1:p.Arg294Leu
ENST00000543543.5:n.1449G>T
ENST00000544182.1:n.1423G>T
ENST00000544387.5:c.854G>T	ENSP00000438424.1:p.Arg285Leu
ENST00000546226.5:n.1736G>T
NM_000190.3:c.974G>T	NP_000181.2:p.Arg325Leu
NM_001024382.1:c.923G>T	NP_001019553.1:p.Arg308Leu
NM_001258208.1:c.854G>T	NP_001245137.1:p.Arg285Leu
NM_001258209.1:c.803G>T	NP_001245138.1:p.Arg268Leu
XM_005271531.1:c.923G>T	XP_005271588.1:p.Arg308Leu
XM_005271532.1:c.923G>T	XP_005271589.1:p.Arg308Leu
XM_005271533.2:c.920G>T	XP_005271590.1:p.Arg307Leu
XM_011542796.1:c.809G>T	XP_011541098.1:p.Arg270Leu
NM_000190.4:c.974G>T MANE Select	NP_000181.2:p.Arg325Leu
NM_001024382.2:c.923G>T	NP_001019553.1:p.Arg308Leu
XM_005271533.3:c.920G>T	XP_005271590.1:p.Arg307Leu
XM_017017629.1:c.923G>T	XP_016873118.1:p.Arg308Leu
XM_024448460.1:c.800G>T	XP_024304228.1:p.Arg267Leu
NM_001258208.2:c.854G>T	NP_001245137.1:p.Arg285Leu
NM_001258209.2:c.803G>T	NP_001245138.1:p.Arg268Leu