Canonical Allele Identifier: CA382899080

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093113-G-A
• MyVariant Identifiers: chr11:g.118963823G>A (hg19) ; chr11:g.119093113G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093113G>A , CM000673.2:g.119093113G>A	GRCh38
NC_000011.9:g.118963823G>A , CM000673.1:g.118963823G>A	GRCh37
NC_000011.8:g.118469033G>A	NCBI36
NG_008093.1:g.13237G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.751G>A	ENSP00000509288.1:p.Glu251Lys
ENST00000691144.1:n.3131G>A
ENST00000691249.1:n.1740G>A
ENST00000442944.7:c.898G>A	ENSP00000392041.3:p.Glu300Lys
ENST00000640813.1:c.*153G>A	ENSP00000491061.1:n.*153G>A
ENST00000648026.1:c.810G>A	ENSP00000498044.1:n.810G>A
ENST00000648374.1:c.865G>A	ENSP00000497255.1:p.Glu289Lys
ENST00000650101.1:c.847G>A	ENSP00000496970.1:p.Glu283Lys
ENST00000650307.1:n.1742G>A
ENST00000652429.1:c.916G>A MANE Select	ENSP00000498786.1:p.Glu306Lys
ENST00000278715.7:c.916G>A	ENSP00000278715.3:p.Glu306Lys
ENST00000392841.1:c.865G>A	ENSP00000376584.1:p.Glu289Lys
ENST00000442944.6:c.865G>A	ENSP00000392041.2:p.Glu289Lys
ENST00000537841.5:c.865G>A	ENSP00000444730.1:p.Glu289Lys
ENST00000539045.1:n.415G>A
ENST00000542044.5:n.1361G>A
ENST00000542729.5:c.745G>A	ENSP00000443058.1:p.Glu249Lys
ENST00000543090.5:c.823G>A	ENSP00000445429.1:p.Glu275Lys
ENST00000543543.5:n.1391G>A
ENST00000544182.1:n.1365G>A
ENST00000544387.5:c.796G>A	ENSP00000438424.1:p.Glu266Lys
ENST00000546226.5:n.1678G>A
NM_000190.3:c.916G>A	NP_000181.2:p.Glu306Lys
NM_001024382.1:c.865G>A	NP_001019553.1:p.Glu289Lys
NM_001258208.1:c.796G>A	NP_001245137.1:p.Glu266Lys
NM_001258209.1:c.745G>A	NP_001245138.1:p.Glu249Lys
XM_005271531.1:c.865G>A	XP_005271588.1:p.Glu289Lys
XM_005271532.1:c.865G>A	XP_005271589.1:p.Glu289Lys
XM_005271533.2:c.862G>A	XP_005271590.1:p.Glu288Lys
XM_011542796.1:c.751G>A	XP_011541098.1:p.Glu251Lys
NM_000190.4:c.916G>A MANE Select	NP_000181.2:p.Glu306Lys
NM_001024382.2:c.865G>A	NP_001019553.1:p.Glu289Lys
XM_005271533.3:c.862G>A	XP_005271590.1:p.Glu288Lys
XM_017017629.1:c.865G>A	XP_016873118.1:p.Glu289Lys
XM_024448460.1:c.742G>A	XP_024304228.1:p.Glu248Lys
NM_001258208.2:c.796G>A	NP_001245137.1:p.Glu266Lys
NM_001258209.2:c.745G>A	NP_001245138.1:p.Glu249Lys