Canonical Allele Identifier: CA382899440

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963880C>G (hg19) ; chr11:g.119093170C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093170C>G , CM000673.2:g.119093170C>G	GRCh38
NC_000011.9:g.118963880C>G , CM000673.1:g.118963880C>G	GRCh37
NC_000011.8:g.118469090C>G	NCBI36
NG_008093.1:g.13294C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.808C>G	ENSP00000509288.1:p.Arg270Gly
ENST00000691144.1:n.3188C>G
ENST00000691249.1:n.1797C>G
ENST00000442944.7:c.955C>G	ENSP00000392041.3:p.Arg319Gly
ENST00000640813.1:c.*210C>G	ENSP00000491061.1:n.*210C>G
ENST00000648026.1:c.867C>G	ENSP00000498044.1:n.867C>G
ENST00000648374.1:c.922C>G	ENSP00000497255.1:p.Arg308Gly
ENST00000650101.1:c.904C>G	ENSP00000496970.1:p.Arg302Gly
ENST00000650307.1:n.1799C>G
ENST00000652429.1:c.973C>G MANE Select	ENSP00000498786.1:p.Arg325Gly
ENST00000278715.7:c.973C>G	ENSP00000278715.3:p.Arg325Gly
ENST00000392841.1:c.922C>G	ENSP00000376584.1:p.Arg308Gly
ENST00000442944.6:c.922C>G	ENSP00000392041.2:p.Arg308Gly
ENST00000537841.5:c.922C>G	ENSP00000444730.1:p.Arg308Gly
ENST00000539045.1:n.472C>G
ENST00000542044.5:n.1418C>G
ENST00000542729.5:c.802C>G	ENSP00000443058.1:p.Arg268Gly
ENST00000543090.5:c.880C>G	ENSP00000445429.1:p.Arg294Gly
ENST00000543543.5:n.1448C>G
ENST00000544182.1:n.1422C>G
ENST00000544387.5:c.853C>G	ENSP00000438424.1:p.Arg285Gly
ENST00000546226.5:n.1735C>G
NM_000190.3:c.973C>G	NP_000181.2:p.Arg325Gly
NM_001024382.1:c.922C>G	NP_001019553.1:p.Arg308Gly
NM_001258208.1:c.853C>G	NP_001245137.1:p.Arg285Gly
NM_001258209.1:c.802C>G	NP_001245138.1:p.Arg268Gly
XM_005271531.1:c.922C>G	XP_005271588.1:p.Arg308Gly
XM_005271532.1:c.922C>G	XP_005271589.1:p.Arg308Gly
XM_005271533.2:c.919C>G	XP_005271590.1:p.Arg307Gly
XM_011542796.1:c.808C>G	XP_011541098.1:p.Arg270Gly
NM_000190.4:c.973C>G MANE Select	NP_000181.2:p.Arg325Gly
NM_001024382.2:c.922C>G	NP_001019553.1:p.Arg308Gly
XM_005271533.3:c.919C>G	XP_005271590.1:p.Arg307Gly
XM_017017629.1:c.922C>G	XP_016873118.1:p.Arg308Gly
XM_024448460.1:c.799C>G	XP_024304228.1:p.Arg267Gly
NM_001258208.2:c.853C>G	NP_001245137.1:p.Arg285Gly
NM_001258209.2:c.802C>G	NP_001245138.1:p.Arg268Gly