Canonical Allele Identifier: CA382899127

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963836A>T (hg19) ; chr11:g.119093126A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093126A>T , CM000673.2:g.119093126A>T	GRCh38
NC_000011.9:g.118963836A>T , CM000673.1:g.118963836A>T	GRCh37
NC_000011.8:g.118469046A>T	NCBI36
NG_008093.1:g.13250A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.764A>T	ENSP00000509288.1:p.Glu255Val
ENST00000691144.1:n.3144A>T
ENST00000691249.1:n.1753A>T
ENST00000442944.7:c.911A>T	ENSP00000392041.3:p.Glu304Val
ENST00000640813.1:c.*166A>T	ENSP00000491061.1:n.*166A>T
ENST00000648026.1:c.823A>T	ENSP00000498044.1:n.823A>T
ENST00000648374.1:c.878A>T	ENSP00000497255.1:p.Glu293Val
ENST00000650101.1:c.860A>T	ENSP00000496970.1:p.Glu287Val
ENST00000650307.1:n.1755A>T
ENST00000652429.1:c.929A>T MANE Select	ENSP00000498786.1:p.Glu310Val
ENST00000278715.7:c.929A>T	ENSP00000278715.3:p.Glu310Val
ENST00000392841.1:c.878A>T	ENSP00000376584.1:p.Glu293Val
ENST00000442944.6:c.878A>T	ENSP00000392041.2:p.Glu293Val
ENST00000537841.5:c.878A>T	ENSP00000444730.1:p.Glu293Val
ENST00000539045.1:n.428A>T
ENST00000542044.5:n.1374A>T
ENST00000542729.5:c.758A>T	ENSP00000443058.1:p.Glu253Val
ENST00000543090.5:c.836A>T	ENSP00000445429.1:p.Glu279Val
ENST00000543543.5:n.1404A>T
ENST00000544182.1:n.1378A>T
ENST00000544387.5:c.809A>T	ENSP00000438424.1:p.Glu270Val
ENST00000546226.5:n.1691A>T
NM_000190.3:c.929A>T	NP_000181.2:p.Glu310Val
NM_001024382.1:c.878A>T	NP_001019553.1:p.Glu293Val
NM_001258208.1:c.809A>T	NP_001245137.1:p.Glu270Val
NM_001258209.1:c.758A>T	NP_001245138.1:p.Glu253Val
XM_005271531.1:c.878A>T	XP_005271588.1:p.Glu293Val
XM_005271532.1:c.878A>T	XP_005271589.1:p.Glu293Val
XM_005271533.2:c.875A>T	XP_005271590.1:p.Glu292Val
XM_011542796.1:c.764A>T	XP_011541098.1:p.Glu255Val
NM_000190.4:c.929A>T MANE Select	NP_000181.2:p.Glu310Val
NM_001024382.2:c.878A>T	NP_001019553.1:p.Glu293Val
XM_005271533.3:c.875A>T	XP_005271590.1:p.Glu292Val
XM_017017629.1:c.878A>T	XP_016873118.1:p.Glu293Val
XM_024448460.1:c.755A>T	XP_024304228.1:p.Glu252Val
NM_001258208.2:c.809A>T	NP_001245137.1:p.Glu270Val
NM_001258209.2:c.758A>T	NP_001245138.1:p.Glu253Val