Canonical Allele Identifier: CA382899112

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963830G>C (hg19) ; chr11:g.119093120G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093120G>C , CM000673.2:g.119093120G>C	GRCh38
NC_000011.9:g.118963830G>C , CM000673.1:g.118963830G>C	GRCh37
NC_000011.8:g.118469040G>C	NCBI36
NG_008093.1:g.13244G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.758G>C	ENSP00000509288.1:p.Gly253Ala
ENST00000691144.1:n.3138G>C
ENST00000691249.1:n.1747G>C
ENST00000442944.7:c.905G>C	ENSP00000392041.3:p.Gly302Ala
ENST00000640813.1:c.*160G>C	ENSP00000491061.1:n.*160G>C
ENST00000648026.1:c.817G>C	ENSP00000498044.1:n.817G>C
ENST00000648374.1:c.872G>C	ENSP00000497255.1:p.Gly291Ala
ENST00000650101.1:c.854G>C	ENSP00000496970.1:p.Gly285Ala
ENST00000650307.1:n.1749G>C
ENST00000652429.1:c.923G>C MANE Select	ENSP00000498786.1:p.Gly308Ala
ENST00000278715.7:c.923G>C	ENSP00000278715.3:p.Gly308Ala
ENST00000392841.1:c.872G>C	ENSP00000376584.1:p.Gly291Ala
ENST00000442944.6:c.872G>C	ENSP00000392041.2:p.Gly291Ala
ENST00000537841.5:c.872G>C	ENSP00000444730.1:p.Gly291Ala
ENST00000539045.1:n.422G>C
ENST00000542044.5:n.1368G>C
ENST00000542729.5:c.752G>C	ENSP00000443058.1:p.Gly251Ala
ENST00000543090.5:c.830G>C	ENSP00000445429.1:p.Gly277Ala
ENST00000543543.5:n.1398G>C
ENST00000544182.1:n.1372G>C
ENST00000544387.5:c.803G>C	ENSP00000438424.1:p.Gly268Ala
ENST00000546226.5:n.1685G>C
NM_000190.3:c.923G>C	NP_000181.2:p.Gly308Ala
NM_001024382.1:c.872G>C	NP_001019553.1:p.Gly291Ala
NM_001258208.1:c.803G>C	NP_001245137.1:p.Gly268Ala
NM_001258209.1:c.752G>C	NP_001245138.1:p.Gly251Ala
XM_005271531.1:c.872G>C	XP_005271588.1:p.Gly291Ala
XM_005271532.1:c.872G>C	XP_005271589.1:p.Gly291Ala
XM_005271533.2:c.869G>C	XP_005271590.1:p.Gly290Ala
XM_011542796.1:c.758G>C	XP_011541098.1:p.Gly253Ala
NM_000190.4:c.923G>C MANE Select	NP_000181.2:p.Gly308Ala
NM_001024382.2:c.872G>C	NP_001019553.1:p.Gly291Ala
XM_005271533.3:c.869G>C	XP_005271590.1:p.Gly290Ala
XM_017017629.1:c.872G>C	XP_016873118.1:p.Gly291Ala
XM_024448460.1:c.749G>C	XP_024304228.1:p.Gly250Ala
NM_001258208.2:c.803G>C	NP_001245137.1:p.Gly268Ala
NM_001258209.2:c.752G>C	NP_001245138.1:p.Gly251Ala