Canonical Allele Identifier: CA382899099

Gene: HMBS

Linked Data

• gnomAD v4: 11-119093117-A-G
• MyVariant Identifiers: chr11:g.118963827A>G (hg19) ; chr11:g.119093117A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093117A>G , CM000673.2:g.119093117A>G	GRCh38
NC_000011.9:g.118963827A>G , CM000673.1:g.118963827A>G	GRCh37
NC_000011.8:g.118469037A>G	NCBI36
NG_008093.1:g.13241A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.755A>G	ENSP00000509288.1:p.Asp252Gly
ENST00000691144.1:n.3135A>G
ENST00000691249.1:n.1744A>G
ENST00000442944.7:c.902A>G	ENSP00000392041.3:p.Asp301Gly
ENST00000640813.1:c.*157A>G	ENSP00000491061.1:n.*157A>G
ENST00000648026.1:c.814A>G	ENSP00000498044.1:n.814A>G
ENST00000648374.1:c.869A>G	ENSP00000497255.1:p.Asp290Gly
ENST00000650101.1:c.851A>G	ENSP00000496970.1:p.Asp284Gly
ENST00000650307.1:n.1746A>G
ENST00000652429.1:c.920A>G MANE Select	ENSP00000498786.1:p.Asp307Gly
ENST00000278715.7:c.920A>G	ENSP00000278715.3:p.Asp307Gly
ENST00000392841.1:c.869A>G	ENSP00000376584.1:p.Asp290Gly
ENST00000442944.6:c.869A>G	ENSP00000392041.2:p.Asp290Gly
ENST00000537841.5:c.869A>G	ENSP00000444730.1:p.Asp290Gly
ENST00000539045.1:n.419A>G
ENST00000542044.5:n.1365A>G
ENST00000542729.5:c.749A>G	ENSP00000443058.1:p.Asp250Gly
ENST00000543090.5:c.827A>G	ENSP00000445429.1:p.Asp276Gly
ENST00000543543.5:n.1395A>G
ENST00000544182.1:n.1369A>G
ENST00000544387.5:c.800A>G	ENSP00000438424.1:p.Asp267Gly
ENST00000546226.5:n.1682A>G
NM_000190.3:c.920A>G	NP_000181.2:p.Asp307Gly
NM_001024382.1:c.869A>G	NP_001019553.1:p.Asp290Gly
NM_001258208.1:c.800A>G	NP_001245137.1:p.Asp267Gly
NM_001258209.1:c.749A>G	NP_001245138.1:p.Asp250Gly
XM_005271531.1:c.869A>G	XP_005271588.1:p.Asp290Gly
XM_005271532.1:c.869A>G	XP_005271589.1:p.Asp290Gly
XM_005271533.2:c.866A>G	XP_005271590.1:p.Asp289Gly
XM_011542796.1:c.755A>G	XP_011541098.1:p.Asp252Gly
NM_000190.4:c.920A>G MANE Select	NP_000181.2:p.Asp307Gly
NM_001024382.2:c.869A>G	NP_001019553.1:p.Asp290Gly
XM_005271533.3:c.866A>G	XP_005271590.1:p.Asp289Gly
XM_017017629.1:c.869A>G	XP_016873118.1:p.Asp290Gly
XM_024448460.1:c.746A>G	XP_024304228.1:p.Asp249Gly
NM_001258208.2:c.800A>G	NP_001245137.1:p.Asp267Gly
NM_001258209.2:c.749A>G	NP_001245138.1:p.Asp250Gly