Canonical Allele Identifier: CA251830
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1471
ClinVar RCV Id: RCV000001536
dbSNP Id: rs118204112

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092500G>A , CM000673.2:g.119092500G>A GRCh38
NC_000011.9:g.118963210G>A , CM000673.1:g.118963210G>A GRCh37
NC_000011.8:g.118468420G>A NCBI36
NG_008093.1:g.12624G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.583G>A ENSP00000509288.1:p.Glu195Lys
ENST00000691144.1:n.2729G>A
ENST00000691249.1:n.1572G>A
ENST00000442944.7:c.730G>A ENSP00000392041.3:p.Glu244Lys
ENST00000640813.1:c.558G>A ENSP00000491061.1:p.Leu186=
ENST00000648026.1:c.642G>A ENSP00000498044.1:p.Leu214=
ENST00000648374.1:c.697G>A ENSP00000497255.1:p.Glu233Lys
ENST00000649823.1:n.1205G>A
ENST00000650101.1:c.679G>A ENSP00000496970.1:p.Glu227Lys
ENST00000650307.1:n.1574G>A
ENST00000652429.1:c.748G>A MANE Select ENSP00000498786.1:p.Glu250Lys
ENST00000278715.7:c.748G>A ENSP00000278715.3:p.Glu250Lys
ENST00000392841.1:c.697G>A ENSP00000376584.1:p.Glu233Lys
ENST00000442944.6:c.697G>A ENSP00000392041.2:p.Glu233Lys
ENST00000537841.5:c.697G>A ENSP00000444730.1:p.Glu233Lys
ENST00000542044.5:n.1193G>A
ENST00000542729.5:c.601-258G>A ENSP00000443058.1:n.601-258G>A
ENST00000543090.5:c.655G>A ENSP00000445429.1:p.Glu219Lys
ENST00000543543.5:n.1223G>A
ENST00000544182.1:n.963G>A
ENST00000544387.5:c.652-258G>A ENSP00000438424.1:n.652-258G>A
ENST00000545621.5:c.*883G>A ENSP00000444849.1:n.*883G>A
ENST00000546226.5:n.1276G>A
NM_000190.3:c.748G>A NP_000181.2:p.Glu250Lys
NM_001024382.1:c.697G>A NP_001019553.1:p.Glu233Lys
NM_001258208.1:c.652-258G>A NP_001245137.1:n.652-258G>A
NM_001258209.1:c.601-258G>A NP_001245138.1:n.601-258G>A
XM_005271531.1:c.697G>A XP_005271588.1:p.Glu233Lys
XM_005271532.1:c.697G>A XP_005271589.1:p.Glu233Lys
XM_005271533.2:c.694G>A XP_005271590.1:p.Glu232Lys
XM_011542796.1:c.583G>A XP_011541098.1:p.Glu195Lys
NM_000190.4:c.748G>A MANE Select NP_000181.2:p.Glu250Lys
NM_001024382.2:c.697G>A NP_001019553.1:p.Glu233Lys
XM_005271533.3:c.694G>A XP_005271590.1:p.Glu232Lys
XM_017017629.1:c.697G>A XP_016873118.1:p.Glu233Lys
XM_024448460.1:c.598-258G>A XP_024304228.1:n.598-258G>A
NM_001258208.2:c.652-258G>A NP_001245137.1:n.652-258G>A
NM_001258209.2:c.601-258G>A NP_001245138.1:n.601-258G>A