Canonical Allele Identifier: CA477369260

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963957C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093247C>T , CM000673.2:g.119093247C>T	GRCh38
NC_000011.9:g.118963957C>T , CM000673.1:g.118963957C>T	GRCh37
NC_000011.8:g.118469167C>T	NCBI36
NG_008093.1:g.13371C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.885C>T	ENSP00000509288.1:p.Ile295=
ENST00000691144.1:n.3265C>T
ENST00000691249.1:n.1874C>T
ENST00000442944.7:c.1032C>T	ENSP00000392041.3:p.Ile344=
ENST00000640813.1:c.*287C>T	ENSP00000491061.1:n.*287C>T
ENST00000648026.1:c.944C>T	ENSP00000498044.1:n.944C>T
ENST00000648374.1:c.999C>T	ENSP00000497255.1:p.Ile333=
ENST00000650101.1:c.981C>T	ENSP00000496970.1:p.Ile327=
ENST00000650307.1:n.1876C>T
ENST00000652429.1:c.1050C>T MANE Select	ENSP00000498786.1:p.Ile350=
ENST00000278715.7:c.1050C>T	ENSP00000278715.3:p.Ile350=
ENST00000392841.1:c.999C>T	ENSP00000376584.1:p.Ile333=
ENST00000442944.6:c.999C>T	ENSP00000392041.2:p.Ile333=
ENST00000537841.5:c.999C>T	ENSP00000444730.1:p.Ile333=
ENST00000539045.1:n.549C>T
ENST00000542044.5:n.1495C>T
ENST00000542729.5:c.879C>T	ENSP00000443058.1:p.Ile293=
ENST00000543090.5:c.957C>T	ENSP00000445429.1:p.Ile319=
ENST00000543543.5:n.1525C>T
ENST00000544182.1:n.1499C>T
ENST00000544387.5:c.930C>T	ENSP00000438424.1:p.Ile310=
ENST00000546226.5:n.1812C>T
NM_000190.3:c.1050C>T	NP_000181.2:p.Ile350=
NM_001024382.1:c.999C>T	NP_001019553.1:p.Ile333=
NM_001258208.1:c.930C>T	NP_001245137.1:p.Ile310=
NM_001258209.1:c.879C>T	NP_001245138.1:p.Ile293=
XM_005271531.1:c.999C>T	XP_005271588.1:p.Ile333=
XM_005271532.1:c.999C>T	XP_005271589.1:p.Ile333=
XM_005271533.2:c.996C>T	XP_005271590.1:p.Ile332=
XM_011542796.1:c.885C>T	XP_011541098.1:p.Ile295=
NM_000190.4:c.1050C>T MANE Select	NP_000181.2:p.Ile350=
NM_001024382.2:c.999C>T	NP_001019553.1:p.Ile333=
XM_005271533.3:c.996C>T	XP_005271590.1:p.Ile332=
XM_017017629.1:c.999C>T	XP_016873118.1:p.Ile333=
XM_024448460.1:c.876C>T	XP_024304228.1:p.Ile292=
NM_001258208.2:c.930C>T	NP_001245137.1:p.Ile310=
NM_001258209.2:c.879C>T	NP_001245138.1:p.Ile293=