Canonical Allele Identifier: CA477124340

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118959929T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119089219T>A , CM000673.2:g.119089219T>A	GRCh38
NC_000011.9:g.118959929T>A , CM000673.1:g.118959929T>A	GRCh37
NC_000011.8:g.118465139T>A	NCBI36
NG_008093.1:g.9343T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.48T>A	ENSP00000509288.1:p.Ile16=
ENST00000686690.1:n.834T>A
ENST00000691144.1:n.1954T>A
ENST00000691249.1:n.797T>A
ENST00000442944.7:c.195T>A	ENSP00000392041.3:p.Ile65=
ENST00000534956.2:n.162T>A
ENST00000536813.6:c.162T>A	ENSP00000438726.2:p.Ile54=
ENST00000546302.6:c.213T>A	ENSP00000445599.1:p.Ile71=
ENST00000640813.1:c.162T>A	ENSP00000491061.1:p.Ile54=
ENST00000648026.1:c.207T>A	ENSP00000498044.1:p.Ile69=
ENST00000648374.1:c.162T>A	ENSP00000497255.1:p.Ile54=
ENST00000648488.1:c.162T>A	ENSP00000498079.1:p.Ile54=
ENST00000649823.1:n.430T>A
ENST00000649868.1:c.68T>A	ENSP00000497548.1:p.Leu23Ter
ENST00000650101.1:c.144T>A	ENSP00000496970.1:p.Ile48=
ENST00000650307.1:n.1039T>A
ENST00000652429.1:c.213T>A MANE Select	ENSP00000498786.1:p.Ile71=
ENST00000278715.7:c.213T>A	ENSP00000278715.3:p.Ile71=
ENST00000392841.1:c.162T>A	ENSP00000376584.1:p.Ile54=
ENST00000442944.6:c.162T>A	ENSP00000392041.2:p.Ile54=
ENST00000534956.1:n.129T>A
ENST00000535253.5:c.162T>A	ENSP00000442079.1:p.Ile54=
ENST00000535793.5:c.*108T>A	ENSP00000439904.1:n.*108T>A
ENST00000536185.5:n.331T>A
ENST00000536813.5:c.195T>A	ENSP00000438726.1:p.Ile65=
ENST00000537841.5:c.162T>A	ENSP00000444730.1:p.Ile54=
ENST00000539986.5:c.162T>A	ENSP00000440092.1:p.Ile54=
ENST00000542044.5:n.658T>A
ENST00000542345.5:n.351T>A
ENST00000542729.5:c.162T>A	ENSP00000443058.1:p.Ile54=
ENST00000542822.5:c.*149T>A	ENSP00000444817.1:n.*149T>A
ENST00000543090.5:c.159T>A	ENSP00000445429.1:p.Ile53=
ENST00000543543.5:n.448T>A
ENST00000543821.5:n.359T>A
ENST00000544360.5:n.181T>A
ENST00000544387.5:c.213T>A	ENSP00000438424.1:p.Ile71=
ENST00000545621.5:c.*108T>A	ENSP00000444849.1:n.*108T>A
ENST00000546226.5:n.272T>A
ENST00000546302.5:c.213T>A	ENSP00000445599.1:p.Ile71=
NM_000190.3:c.213T>A	NP_000181.2:p.Ile71=
NM_001024382.1:c.162T>A	NP_001019553.1:p.Ile54=
NM_001258208.1:c.213T>A	NP_001245137.1:p.Ile71=
NM_001258209.1:c.162T>A	NP_001245138.1:p.Ile54=
XM_005271531.1:c.162T>A	XP_005271588.1:p.Ile54=
XM_005271532.1:c.162T>A	XP_005271589.1:p.Ile54=
XM_005271533.2:c.159T>A	XP_005271590.1:p.Ile53=
XM_011542796.1:c.48T>A	XP_011541098.1:p.Ile16=
NM_000190.4:c.213T>A MANE Select	NP_000181.2:p.Ile71=
NM_001024382.2:c.162T>A	NP_001019553.1:p.Ile54=
XM_005271533.3:c.159T>A	XP_005271590.1:p.Ile53=
XM_017017629.1:c.162T>A	XP_016873118.1:p.Ile54=
XM_024448460.1:c.159T>A	XP_024304228.1:p.Ile53=
NM_001258208.2:c.213T>A	NP_001245137.1:p.Ile71=
NM_001258209.2:c.162T>A	NP_001245138.1:p.Ile54=