Canonical Allele Identifier: CA382898241

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963468G>C (hg19) ; chr11:g.119092758G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092758G>C , CM000673.2:g.119092758G>C	GRCh38
NC_000011.9:g.118963468G>C , CM000673.1:g.118963468G>C	GRCh37
NC_000011.8:g.118468678G>C	NCBI36
NG_008093.1:g.12882G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.607G>C	ENSP00000509288.1:p.Glu203Gln
ENST00000691144.1:n.2987G>C
ENST00000691249.1:n.1596G>C
ENST00000442944.7:c.754G>C	ENSP00000392041.3:p.Glu252Gln
ENST00000640813.1:c.*9G>C	ENSP00000491061.1:n.*9G>C
ENST00000648026.1:c.666G>C	ENSP00000498044.1:n.666G>C
ENST00000648374.1:c.721G>C	ENSP00000497255.1:p.Glu241Gln
ENST00000649823.1:n.1229G>C
ENST00000650101.1:c.703G>C	ENSP00000496970.1:p.Glu235Gln
ENST00000650307.1:n.1598G>C
ENST00000652429.1:c.772G>C MANE Select	ENSP00000498786.1:p.Glu258Gln
ENST00000278715.7:c.772G>C	ENSP00000278715.3:p.Glu258Gln
ENST00000392841.1:c.721G>C	ENSP00000376584.1:p.Glu241Gln
ENST00000442944.6:c.721G>C	ENSP00000392041.2:p.Glu241Gln
ENST00000537841.5:c.721G>C	ENSP00000444730.1:p.Glu241Gln
ENST00000539045.1:n.148G>C
ENST00000542044.5:n.1217G>C
ENST00000542729.5:c.601G>C	ENSP00000443058.1:p.Glu201Gln
ENST00000543090.5:c.679G>C	ENSP00000445429.1:p.Glu227Gln
ENST00000543543.5:n.1247G>C
ENST00000544182.1:n.1221G>C
ENST00000544387.5:c.652G>C	ENSP00000438424.1:p.Glu218Gln
ENST00000546226.5:n.1534G>C
NM_000190.3:c.772G>C	NP_000181.2:p.Glu258Gln
NM_001024382.1:c.721G>C	NP_001019553.1:p.Glu241Gln
NM_001258208.1:c.652G>C	NP_001245137.1:p.Glu218Gln
NM_001258209.1:c.601G>C	NP_001245138.1:p.Glu201Gln
XM_005271531.1:c.721G>C	XP_005271588.1:p.Glu241Gln
XM_005271532.1:c.721G>C	XP_005271589.1:p.Glu241Gln
XM_005271533.2:c.718G>C	XP_005271590.1:p.Glu240Gln
XM_011542796.1:c.607G>C	XP_011541098.1:p.Glu203Gln
NM_000190.4:c.772G>C MANE Select	NP_000181.2:p.Glu258Gln
NM_001024382.2:c.721G>C	NP_001019553.1:p.Glu241Gln
XM_005271533.3:c.718G>C	XP_005271590.1:p.Glu240Gln
XM_017017629.1:c.721G>C	XP_016873118.1:p.Glu241Gln
XM_024448460.1:c.598G>C	XP_024304228.1:p.Glu200Gln
NM_001258208.2:c.652G>C	NP_001245137.1:p.Glu218Gln
NM_001258209.2:c.601G>C	NP_001245138.1:p.Glu201Gln