Canonical Allele Identifier: CA382893234

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118960926G>A (hg19) ; chr11:g.119090216G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119090216G>A , CM000673.2:g.119090216G>A	GRCh38
NC_000011.9:g.118960926G>A , CM000673.1:g.118960926G>A	GRCh37
NC_000011.8:g.118466136G>A	NCBI36
NG_008093.1:g.10340G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.284G>A	ENSP00000509288.1:p.Arg95Lys
ENST00000686690.1:n.1299G>A
ENST00000691144.1:n.2190G>A
ENST00000691249.1:n.1033G>A
ENST00000442944.7:c.431G>A	ENSP00000392041.3:p.Arg144Lys
ENST00000534956.2:n.398G>A
ENST00000536813.6:c.398G>A	ENSP00000438726.2:p.Arg133Lys
ENST00000546302.6:c.371G>A	ENSP00000445599.1:p.Arg124Lys
ENST00000640813.1:c.398G>A	ENSP00000491061.1:p.Arg133Lys
ENST00000648026.1:c.443G>A	ENSP00000498044.1:p.Arg148Lys
ENST00000648374.1:c.398G>A	ENSP00000497255.1:p.Arg133Lys
ENST00000648488.1:c.398G>A	ENSP00000498079.1:p.Arg133Lys
ENST00000649823.1:n.666G>A
ENST00000649868.1:c.*157G>A	ENSP00000497548.1:n.*157G>A
ENST00000650101.1:c.380G>A	ENSP00000496970.1:p.Arg127Lys
ENST00000650307.1:n.1275G>A
ENST00000652429.1:c.449G>A MANE Select	ENSP00000498786.1:p.Arg150Lys
ENST00000278715.7:c.449G>A	ENSP00000278715.3:p.Arg150Lys
ENST00000392841.1:c.398G>A	ENSP00000376584.1:p.Arg133Lys
ENST00000442944.6:c.398G>A	ENSP00000392041.2:p.Arg133Lys
ENST00000534956.1:n.365G>A
ENST00000535253.5:c.398G>A	ENSP00000442079.1:p.Arg133Lys
ENST00000535793.5:c.*344G>A	ENSP00000439904.1:n.*344G>A
ENST00000537841.5:c.398G>A	ENSP00000444730.1:p.Arg133Lys
ENST00000539986.5:c.398G>A	ENSP00000440092.1:p.Arg133Lys
ENST00000542044.5:n.894G>A
ENST00000542345.5:n.587G>A
ENST00000542729.5:c.398G>A	ENSP00000443058.1:p.Arg133Lys
ENST00000542822.5:c.*385G>A	ENSP00000444817.1:n.*385G>A
ENST00000543090.5:c.395G>A	ENSP00000445429.1:p.Arg132Lys
ENST00000543543.5:n.684G>A
ENST00000544360.5:n.417G>A
ENST00000544387.5:c.449G>A	ENSP00000438424.1:p.Arg150Lys
ENST00000545621.5:c.*344G>A	ENSP00000444849.1:n.*344G>A
ENST00000546226.5:n.737G>A
ENST00000546302.5:c.371G>A	ENSP00000445599.1:p.Arg124Lys
NM_000190.3:c.449G>A	NP_000181.2:p.Arg150Lys
NM_001024382.1:c.398G>A	NP_001019553.1:p.Arg133Lys
NM_001258208.1:c.449G>A	NP_001245137.1:p.Arg150Lys
NM_001258209.1:c.398G>A	NP_001245138.1:p.Arg133Lys
XM_005271531.1:c.398G>A	XP_005271588.1:p.Arg133Lys
XM_005271532.1:c.398G>A	XP_005271589.1:p.Arg133Lys
XM_005271533.2:c.395G>A	XP_005271590.1:p.Arg132Lys
XM_011542796.1:c.284G>A	XP_011541098.1:p.Arg95Lys
NM_000190.4:c.449G>A MANE Select	NP_000181.2:p.Arg150Lys
NM_001024382.2:c.398G>A	NP_001019553.1:p.Arg133Lys
XM_005271533.3:c.395G>A	XP_005271590.1:p.Arg132Lys
XM_017017629.1:c.398G>A	XP_016873118.1:p.Arg133Lys
XM_024448460.1:c.395G>A	XP_024304228.1:p.Arg132Lys
NM_001258208.2:c.449G>A	NP_001245137.1:p.Arg150Lys
NM_001258209.2:c.398G>A	NP_001245138.1:p.Arg133Lys