Canonical Allele Identifier: CA382898271

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092767-T-G
• MyVariant Identifiers: chr11:g.118963477T>G (hg19) ; chr11:g.119092767T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092767T>G , CM000673.2:g.119092767T>G	GRCh38
NC_000011.9:g.118963477T>G , CM000673.1:g.118963477T>G	GRCh37
NC_000011.8:g.118468687T>G	NCBI36
NG_008093.1:g.12891T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.616T>G	ENSP00000509288.1:p.Cys206Gly
ENST00000691144.1:n.2996T>G
ENST00000691249.1:n.1605T>G
ENST00000442944.7:c.763T>G	ENSP00000392041.3:p.Cys255Gly
ENST00000640813.1:c.*18T>G	ENSP00000491061.1:n.*18T>G
ENST00000648026.1:c.675T>G	ENSP00000498044.1:n.675T>G
ENST00000648374.1:c.730T>G	ENSP00000497255.1:p.Cys244Gly
ENST00000649823.1:n.1238T>G
ENST00000650101.1:c.712T>G	ENSP00000496970.1:p.Cys238Gly
ENST00000650307.1:n.1607T>G
ENST00000652429.1:c.781T>G MANE Select	ENSP00000498786.1:p.Cys261Gly
ENST00000278715.7:c.781T>G	ENSP00000278715.3:p.Cys261Gly
ENST00000392841.1:c.730T>G	ENSP00000376584.1:p.Cys244Gly
ENST00000442944.6:c.730T>G	ENSP00000392041.2:p.Cys244Gly
ENST00000537841.5:c.730T>G	ENSP00000444730.1:p.Cys244Gly
ENST00000539045.1:n.157T>G
ENST00000542044.5:n.1226T>G
ENST00000542729.5:c.610T>G	ENSP00000443058.1:p.Cys204Gly
ENST00000543090.5:c.688T>G	ENSP00000445429.1:p.Cys230Gly
ENST00000543543.5:n.1256T>G
ENST00000544182.1:n.1230T>G
ENST00000544387.5:c.661T>G	ENSP00000438424.1:p.Cys221Gly
ENST00000546226.5:n.1543T>G
NM_000190.3:c.781T>G	NP_000181.2:p.Cys261Gly
NM_001024382.1:c.730T>G	NP_001019553.1:p.Cys244Gly
NM_001258208.1:c.661T>G	NP_001245137.1:p.Cys221Gly
NM_001258209.1:c.610T>G	NP_001245138.1:p.Cys204Gly
XM_005271531.1:c.730T>G	XP_005271588.1:p.Cys244Gly
XM_005271532.1:c.730T>G	XP_005271589.1:p.Cys244Gly
XM_005271533.2:c.727T>G	XP_005271590.1:p.Cys243Gly
XM_011542796.1:c.616T>G	XP_011541098.1:p.Cys206Gly
NM_000190.4:c.781T>G MANE Select	NP_000181.2:p.Cys261Gly
NM_001024382.2:c.730T>G	NP_001019553.1:p.Cys244Gly
XM_005271533.3:c.727T>G	XP_005271590.1:p.Cys243Gly
XM_017017629.1:c.730T>G	XP_016873118.1:p.Cys244Gly
XM_024448460.1:c.607T>G	XP_024304228.1:p.Cys203Gly
NM_001258208.2:c.661T>G	NP_001245137.1:p.Cys221Gly
NM_001258209.2:c.610T>G	NP_001245138.1:p.Cys204Gly