Canonical Allele Identifier: CA477369352

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963931T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093221T>C , CM000673.2:g.119093221T>C	GRCh38
NC_000011.9:g.118963931T>C , CM000673.1:g.118963931T>C	GRCh37
NC_000011.8:g.118469141T>C	NCBI36
NG_008093.1:g.13345T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.859T>C	ENSP00000509288.1:p.Leu287=
ENST00000691144.1:n.3239T>C
ENST00000691249.1:n.1848T>C
ENST00000442944.7:c.1006T>C	ENSP00000392041.3:p.Leu336=
ENST00000640813.1:c.*261T>C	ENSP00000491061.1:n.*261T>C
ENST00000648026.1:c.918T>C	ENSP00000498044.1:n.918T>C
ENST00000648374.1:c.973T>C	ENSP00000497255.1:p.Leu325=
ENST00000650101.1:c.955T>C	ENSP00000496970.1:p.Leu319=
ENST00000650307.1:n.1850T>C
ENST00000652429.1:c.1024T>C MANE Select	ENSP00000498786.1:p.Leu342=
ENST00000278715.7:c.1024T>C	ENSP00000278715.3:p.Leu342=
ENST00000392841.1:c.973T>C	ENSP00000376584.1:p.Leu325=
ENST00000442944.6:c.973T>C	ENSP00000392041.2:p.Leu325=
ENST00000537841.5:c.973T>C	ENSP00000444730.1:p.Leu325=
ENST00000539045.1:n.523T>C
ENST00000542044.5:n.1469T>C
ENST00000542729.5:c.853T>C	ENSP00000443058.1:p.Leu285=
ENST00000543090.5:c.931T>C	ENSP00000445429.1:p.Leu311=
ENST00000543543.5:n.1499T>C
ENST00000544182.1:n.1473T>C
ENST00000544387.5:c.904T>C	ENSP00000438424.1:p.Leu302=
ENST00000546226.5:n.1786T>C
NM_000190.3:c.1024T>C	NP_000181.2:p.Leu342=
NM_001024382.1:c.973T>C	NP_001019553.1:p.Leu325=
NM_001258208.1:c.904T>C	NP_001245137.1:p.Leu302=
NM_001258209.1:c.853T>C	NP_001245138.1:p.Leu285=
XM_005271531.1:c.973T>C	XP_005271588.1:p.Leu325=
XM_005271532.1:c.973T>C	XP_005271589.1:p.Leu325=
XM_005271533.2:c.970T>C	XP_005271590.1:p.Leu324=
XM_011542796.1:c.859T>C	XP_011541098.1:p.Leu287=
NM_000190.4:c.1024T>C MANE Select	NP_000181.2:p.Leu342=
NM_001024382.2:c.973T>C	NP_001019553.1:p.Leu325=
XM_005271533.3:c.970T>C	XP_005271590.1:p.Leu324=
XM_017017629.1:c.973T>C	XP_016873118.1:p.Leu325=
XM_024448460.1:c.850T>C	XP_024304228.1:p.Leu284=
NM_001258208.2:c.904T>C	NP_001245137.1:p.Leu302=
NM_001258209.2:c.853T>C	NP_001245138.1:p.Leu285=