Canonical Allele Identifier: CA382899444

Gene: HMBS

Linked Data

• dbSNP Id: rs781674367
• MyVariant Identifiers: chr11:g.118963881G>C (hg19) ; chr11:g.119093171G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093171G>C , CM000673.2:g.119093171G>C	GRCh38
NC_000011.9:g.118963881G>C , CM000673.1:g.118963881G>C	GRCh37
NC_000011.8:g.118469091G>C	NCBI36
NG_008093.1:g.13295G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.809G>C	ENSP00000509288.1:p.Arg270Pro
ENST00000691144.1:n.3189G>C
ENST00000691249.1:n.1798G>C
ENST00000442944.7:c.956G>C	ENSP00000392041.3:p.Arg319Pro
ENST00000640813.1:c.*211G>C	ENSP00000491061.1:n.*211G>C
ENST00000648026.1:c.868G>C	ENSP00000498044.1:n.868G>C
ENST00000648374.1:c.923G>C	ENSP00000497255.1:p.Arg308Pro
ENST00000650101.1:c.905G>C	ENSP00000496970.1:p.Arg302Pro
ENST00000650307.1:n.1800G>C
ENST00000652429.1:c.974G>C MANE Select	ENSP00000498786.1:p.Arg325Pro
ENST00000278715.7:c.974G>C	ENSP00000278715.3:p.Arg325Pro
ENST00000392841.1:c.923G>C	ENSP00000376584.1:p.Arg308Pro
ENST00000442944.6:c.923G>C	ENSP00000392041.2:p.Arg308Pro
ENST00000537841.5:c.923G>C	ENSP00000444730.1:p.Arg308Pro
ENST00000539045.1:n.473G>C
ENST00000542044.5:n.1419G>C
ENST00000542729.5:c.803G>C	ENSP00000443058.1:p.Arg268Pro
ENST00000543090.5:c.881G>C	ENSP00000445429.1:p.Arg294Pro
ENST00000543543.5:n.1449G>C
ENST00000544182.1:n.1423G>C
ENST00000544387.5:c.854G>C	ENSP00000438424.1:p.Arg285Pro
ENST00000546226.5:n.1736G>C
NM_000190.3:c.974G>C	NP_000181.2:p.Arg325Pro
NM_001024382.1:c.923G>C	NP_001019553.1:p.Arg308Pro
NM_001258208.1:c.854G>C	NP_001245137.1:p.Arg285Pro
NM_001258209.1:c.803G>C	NP_001245138.1:p.Arg268Pro
XM_005271531.1:c.923G>C	XP_005271588.1:p.Arg308Pro
XM_005271532.1:c.923G>C	XP_005271589.1:p.Arg308Pro
XM_005271533.2:c.920G>C	XP_005271590.1:p.Arg307Pro
XM_011542796.1:c.809G>C	XP_011541098.1:p.Arg270Pro
NM_000190.4:c.974G>C MANE Select	NP_000181.2:p.Arg325Pro
NM_001024382.2:c.923G>C	NP_001019553.1:p.Arg308Pro
XM_005271533.3:c.920G>C	XP_005271590.1:p.Arg307Pro
XM_017017629.1:c.923G>C	XP_016873118.1:p.Arg308Pro
XM_024448460.1:c.800G>C	XP_024304228.1:p.Arg267Pro
NM_001258208.2:c.854G>C	NP_001245137.1:p.Arg285Pro
NM_001258209.2:c.803G>C	NP_001245138.1:p.Arg268Pro