Canonical Allele Identifier: CA382897733

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963187A>G (hg19) ; chr11:g.119092477A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092477A>G , CM000673.2:g.119092477A>G	GRCh38
NC_000011.9:g.118963187A>G , CM000673.1:g.118963187A>G	GRCh37
NC_000011.8:g.118468397A>G	NCBI36
NG_008093.1:g.12601A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.560A>G	ENSP00000509288.1:p.Glu187Gly
ENST00000691144.1:n.2706A>G
ENST00000691249.1:n.1549A>G
ENST00000442944.7:c.707A>G	ENSP00000392041.3:p.Glu236Gly
ENST00000536813.6:c.674A>G	ENSP00000438726.2:p.Glu225Gly
ENST00000640813.1:c.535A>G	ENSP00000491061.1:p.Arg179Gly
ENST00000648026.1:c.619A>G	ENSP00000498044.1:p.Arg207Gly
ENST00000648374.1:c.674A>G	ENSP00000497255.1:p.Glu225Gly
ENST00000649823.1:n.1182A>G
ENST00000650101.1:c.656A>G	ENSP00000496970.1:p.Glu219Gly
ENST00000650307.1:n.1551A>G
ENST00000652429.1:c.725A>G MANE Select	ENSP00000498786.1:p.Glu242Gly
ENST00000278715.7:c.725A>G	ENSP00000278715.3:p.Glu242Gly
ENST00000392841.1:c.674A>G	ENSP00000376584.1:p.Glu225Gly
ENST00000442944.6:c.674A>G	ENSP00000392041.2:p.Glu225Gly
ENST00000537841.5:c.674A>G	ENSP00000444730.1:p.Glu225Gly
ENST00000542044.5:n.1170A>G
ENST00000542729.5:c.601-281A>G	ENSP00000443058.1:n.601-281A>G
ENST00000543090.5:c.632A>G	ENSP00000445429.1:p.Glu211Gly
ENST00000543543.5:n.1200A>G
ENST00000544182.1:n.940A>G
ENST00000544387.5:c.652-281A>G	ENSP00000438424.1:n.652-281A>G
ENST00000545621.5:c.*860A>G	ENSP00000444849.1:n.*860A>G
ENST00000546226.5:n.1253A>G
NM_000190.3:c.725A>G	NP_000181.2:p.Glu242Gly
NM_001024382.1:c.674A>G	NP_001019553.1:p.Glu225Gly
NM_001258208.1:c.652-281A>G	NP_001245137.1:n.652-281A>G
NM_001258209.1:c.601-281A>G	NP_001245138.1:n.601-281A>G
XM_005271531.1:c.674A>G	XP_005271588.1:p.Glu225Gly
XM_005271532.1:c.674A>G	XP_005271589.1:p.Glu225Gly
XM_005271533.2:c.671A>G	XP_005271590.1:p.Glu224Gly
XM_011542796.1:c.560A>G	XP_011541098.1:p.Glu187Gly
NM_000190.4:c.725A>G MANE Select	NP_000181.2:p.Glu242Gly
NM_001024382.2:c.674A>G	NP_001019553.1:p.Glu225Gly
XM_005271533.3:c.671A>G	XP_005271590.1:p.Glu224Gly
XM_017017629.1:c.674A>G	XP_016873118.1:p.Glu225Gly
XM_024448460.1:c.598-281A>G	XP_024304228.1:n.598-281A>G
NM_001258208.2:c.652-281A>G	NP_001245137.1:n.652-281A>G
NM_001258209.2:c.601-281A>G	NP_001245138.1:n.601-281A>G