Canonical Allele Identifier: CA477369337

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963909G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093199G>A , CM000673.2:g.119093199G>A	GRCh38
NC_000011.9:g.118963909G>A , CM000673.1:g.118963909G>A	GRCh37
NC_000011.8:g.118469119G>A	NCBI36
NG_008093.1:g.13323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.837G>A	ENSP00000509288.1:p.Leu279=
ENST00000691144.1:n.3217G>A
ENST00000691249.1:n.1826G>A
ENST00000442944.7:c.984G>A	ENSP00000392041.3:p.Leu328=
ENST00000640813.1:c.*239G>A	ENSP00000491061.1:n.*239G>A
ENST00000648026.1:c.896G>A	ENSP00000498044.1:n.896G>A
ENST00000648374.1:c.951G>A	ENSP00000497255.1:p.Leu317=
ENST00000650101.1:c.933G>A	ENSP00000496970.1:p.Leu311=
ENST00000650307.1:n.1828G>A
ENST00000652429.1:c.1002G>A MANE Select	ENSP00000498786.1:p.Leu334=
ENST00000278715.7:c.1002G>A	ENSP00000278715.3:p.Leu334=
ENST00000392841.1:c.951G>A	ENSP00000376584.1:p.Leu317=
ENST00000442944.6:c.951G>A	ENSP00000392041.2:p.Leu317=
ENST00000537841.5:c.951G>A	ENSP00000444730.1:p.Leu317=
ENST00000539045.1:n.501G>A
ENST00000542044.5:n.1447G>A
ENST00000542729.5:c.831G>A	ENSP00000443058.1:p.Leu277=
ENST00000543090.5:c.909G>A	ENSP00000445429.1:p.Leu303=
ENST00000543543.5:n.1477G>A
ENST00000544182.1:n.1451G>A
ENST00000544387.5:c.882G>A	ENSP00000438424.1:p.Leu294=
ENST00000546226.5:n.1764G>A
NM_000190.3:c.1002G>A	NP_000181.2:p.Leu334=
NM_001024382.1:c.951G>A	NP_001019553.1:p.Leu317=
NM_001258208.1:c.882G>A	NP_001245137.1:p.Leu294=
NM_001258209.1:c.831G>A	NP_001245138.1:p.Leu277=
XM_005271531.1:c.951G>A	XP_005271588.1:p.Leu317=
XM_005271532.1:c.951G>A	XP_005271589.1:p.Leu317=
XM_005271533.2:c.948G>A	XP_005271590.1:p.Leu316=
XM_011542796.1:c.837G>A	XP_011541098.1:p.Leu279=
NM_000190.4:c.1002G>A MANE Select	NP_000181.2:p.Leu334=
NM_001024382.2:c.951G>A	NP_001019553.1:p.Leu317=
XM_005271533.3:c.948G>A	XP_005271590.1:p.Leu316=
XM_017017629.1:c.951G>A	XP_016873118.1:p.Leu317=
XM_024448460.1:c.828G>A	XP_024304228.1:p.Leu276=
NM_001258208.2:c.882G>A	NP_001245137.1:p.Leu294=
NM_001258209.2:c.831G>A	NP_001245138.1:p.Leu277=