Canonical Allele Identifier: CA382896696

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092138-A-G
• MyVariant Identifiers: chr11:g.118962848A>G (hg19) ; chr11:g.119092138A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092138A>G , CM000673.2:g.119092138A>G	GRCh38
NC_000011.9:g.118962848A>G , CM000673.1:g.118962848A>G	GRCh37
NC_000011.8:g.118468058A>G	NCBI36
NG_008093.1:g.12262A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.461A>G	ENSP00000509288.1:p.Glu154Gly
ENST00000691144.1:n.2367A>G
ENST00000691249.1:n.1210A>G
ENST00000442944.7:c.608A>G	ENSP00000392041.3:p.Glu203Gly
ENST00000536813.6:c.575A>G	ENSP00000438726.2:p.Glu192Gly
ENST00000546302.6:c.548A>G	ENSP00000445599.1:p.Glu183Gly
ENST00000640813.1:c.461+264A>G	ENSP00000491061.1:n.461+264A>G
ENST00000648026.1:c.520A>G	ENSP00000498044.1:p.Arg174Gly
ENST00000648374.1:c.575A>G	ENSP00000497255.1:p.Glu192Gly
ENST00000648488.1:c.*99A>G	ENSP00000498079.1:n.*99A>G
ENST00000649823.1:n.843A>G
ENST00000650101.1:c.557A>G	ENSP00000496970.1:p.Glu186Gly
ENST00000650307.1:n.1452A>G
ENST00000652429.1:c.626A>G MANE Select	ENSP00000498786.1:p.Glu209Gly
ENST00000278715.7:c.626A>G	ENSP00000278715.3:p.Glu209Gly
ENST00000392841.1:c.575A>G	ENSP00000376584.1:p.Glu192Gly
ENST00000442944.6:c.575A>G	ENSP00000392041.2:p.Glu192Gly
ENST00000537841.5:c.575A>G	ENSP00000444730.1:p.Glu192Gly
ENST00000542044.5:n.1071A>G
ENST00000542345.5:n.764A>G
ENST00000542729.5:c.575A>G	ENSP00000443058.1:p.Glu192Gly
ENST00000543090.5:c.559-266A>G	ENSP00000445429.1:n.559-266A>G
ENST00000543543.5:n.861A>G
ENST00000544182.1:n.601A>G
ENST00000544387.5:c.626A>G	ENSP00000438424.1:p.Glu209Gly
ENST00000545621.5:c.*521A>G	ENSP00000444849.1:n.*521A>G
ENST00000546226.5:n.914A>G
ENST00000546302.5:c.548A>G	ENSP00000445599.1:p.Glu183Gly
NM_000190.3:c.626A>G	NP_000181.2:p.Glu209Gly
NM_001024382.1:c.575A>G	NP_001019553.1:p.Glu192Gly
NM_001258208.1:c.626A>G	NP_001245137.1:p.Glu209Gly
NM_001258209.1:c.575A>G	NP_001245138.1:p.Glu192Gly
XM_005271531.1:c.575A>G	XP_005271588.1:p.Glu192Gly
XM_005271532.1:c.575A>G	XP_005271589.1:p.Glu192Gly
XM_005271533.2:c.572A>G	XP_005271590.1:p.Glu191Gly
XM_011542796.1:c.461A>G	XP_011541098.1:p.Glu154Gly
NM_000190.4:c.626A>G MANE Select	NP_000181.2:p.Glu209Gly
NM_001024382.2:c.575A>G	NP_001019553.1:p.Glu192Gly
XM_005271533.3:c.572A>G	XP_005271590.1:p.Glu191Gly
XM_017017629.1:c.575A>G	XP_016873118.1:p.Glu192Gly
XM_024448460.1:c.572A>G	XP_024304228.1:p.Glu191Gly
NM_001258208.2:c.626A>G	NP_001245137.1:p.Glu209Gly
NM_001258209.2:c.575A>G	NP_001245138.1:p.Glu192Gly