Canonical Allele Identifier: CA251826
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1467
dbSNP Id: rs118204110

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092419G>A , CM000673.2:g.119092419G>A GRCh38
NC_000011.9:g.118963129G>A , CM000673.1:g.118963129G>A GRCh37
NC_000011.8:g.118468339G>A NCBI36
NG_008093.1:g.12543G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.502G>A ENSP00000509288.1:p.Glu168Lys
ENST00000691144.1:n.2648G>A
ENST00000691249.1:n.1491G>A
ENST00000442944.7:c.649G>A ENSP00000392041.3:p.Glu217Lys
ENST00000536813.6:c.616G>A ENSP00000438726.2:p.Glu206Lys
ENST00000640813.1:c.477G>A ENSP00000491061.1:p.Trp159Ter
ENST00000648026.1:c.561G>A ENSP00000498044.1:p.Trp187Ter
ENST00000648374.1:c.616G>A ENSP00000497255.1:p.Glu206Lys
ENST00000649823.1:n.1124G>A
ENST00000650101.1:c.598G>A ENSP00000496970.1:p.Glu200Lys
ENST00000650307.1:n.1493G>A
ENST00000652429.1:c.667G>A MANE Select ENSP00000498786.1:p.Glu223Lys
ENST00000278715.7:c.667G>A ENSP00000278715.3:p.Glu223Lys
ENST00000392841.1:c.616G>A ENSP00000376584.1:p.Glu206Lys
ENST00000442944.6:c.616G>A ENSP00000392041.2:p.Glu206Lys
ENST00000537841.5:c.616G>A ENSP00000444730.1:p.Glu206Lys
ENST00000542044.5:n.1112G>A
ENST00000542729.5:c.600+256G>A ENSP00000443058.1:n.600+256G>A
ENST00000543090.5:c.574G>A ENSP00000445429.1:p.Glu192Lys
ENST00000543543.5:n.1142G>A
ENST00000544182.1:n.882G>A
ENST00000544387.5:c.651+256G>A ENSP00000438424.1:n.651+256G>A
ENST00000545621.5:c.*802G>A ENSP00000444849.1:n.*802G>A
ENST00000546226.5:n.1195G>A
NM_000190.3:c.667G>A NP_000181.2:p.Glu223Lys
NM_001024382.1:c.616G>A NP_001019553.1:p.Glu206Lys
NM_001258208.1:c.651+256G>A NP_001245137.1:n.651+256G>A
NM_001258209.1:c.600+256G>A NP_001245138.1:n.600+256G>A
XM_005271531.1:c.616G>A XP_005271588.1:p.Glu206Lys
XM_005271532.1:c.616G>A XP_005271589.1:p.Glu206Lys
XM_005271533.2:c.613G>A XP_005271590.1:p.Glu205Lys
XM_011542796.1:c.502G>A XP_011541098.1:p.Glu168Lys
NM_000190.4:c.667G>A MANE Select NP_000181.2:p.Glu223Lys
NM_001024382.2:c.616G>A NP_001019553.1:p.Glu206Lys
XM_005271533.3:c.613G>A XP_005271590.1:p.Glu205Lys
XM_017017629.1:c.616G>A XP_016873118.1:p.Glu206Lys
XM_024448460.1:c.597+256G>A XP_024304228.1:n.597+256G>A
NM_001258208.2:c.651+256G>A NP_001245137.1:n.651+256G>A
NM_001258209.2:c.600+256G>A NP_001245138.1:n.600+256G>A