Canonical Allele Identifier: CA251799
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1448
ClinVar RCV Id: RCV000001513
dbSNP Id: rs118204097

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119090230C>T , CM000673.2:g.119090230C>T GRCh38
NC_000011.9:g.118960940C>T , CM000673.1:g.118960940C>T GRCh37
NC_000011.8:g.118466150C>T NCBI36
NG_008093.1:g.10354C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.298C>T ENSP00000509288.1:p.Gln100Ter
ENST00000686690.1:n.1313C>T
ENST00000691144.1:n.2204C>T
ENST00000691249.1:n.1047C>T
ENST00000442944.7:c.445C>T ENSP00000392041.3:p.Gln149Ter
ENST00000534956.2:n.412C>T
ENST00000536813.6:c.412C>T ENSP00000438726.2:p.Gln138Ter
ENST00000546302.6:c.385C>T ENSP00000445599.1:p.Gln129Ter
ENST00000640813.1:c.412C>T ENSP00000491061.1:p.Gln138Ter
ENST00000648026.1:c.457C>T ENSP00000498044.1:p.Gln153Ter
ENST00000648374.1:c.412C>T ENSP00000497255.1:p.Gln138Ter
ENST00000648488.1:c.412C>T ENSP00000498079.1:p.Gln138Ter
ENST00000649823.1:n.680C>T
ENST00000649868.1:c.*171C>T ENSP00000497548.1:n.*171C>T
ENST00000650101.1:c.394C>T ENSP00000496970.1:p.Gln132Ter
ENST00000650307.1:n.1289C>T
ENST00000652429.1:c.463C>T MANE Select ENSP00000498786.1:p.Gln155Ter
ENST00000278715.7:c.463C>T ENSP00000278715.3:p.Gln155Ter
ENST00000392841.1:c.412C>T ENSP00000376584.1:p.Gln138Ter
ENST00000442944.6:c.412C>T ENSP00000392041.2:p.Gln138Ter
ENST00000534956.1:n.379C>T
ENST00000535253.5:c.412C>T ENSP00000442079.1:p.Gln138Ter
ENST00000535793.5:c.*358C>T ENSP00000439904.1:n.*358C>T
ENST00000537841.5:c.412C>T ENSP00000444730.1:p.Gln138Ter
ENST00000539986.5:c.412C>T ENSP00000440092.1:p.Gln138Ter
ENST00000542044.5:n.908C>T
ENST00000542345.5:n.601C>T
ENST00000542729.5:c.412C>T ENSP00000443058.1:p.Gln138Ter
ENST00000542822.5:c.*399C>T ENSP00000444817.1:n.*399C>T
ENST00000543090.5:c.409C>T ENSP00000445429.1:p.Gln137Ter
ENST00000543543.5:n.698C>T
ENST00000544360.5:n.431C>T
ENST00000544387.5:c.463C>T ENSP00000438424.1:p.Gln155Ter
ENST00000545621.5:c.*358C>T ENSP00000444849.1:n.*358C>T
ENST00000546226.5:n.751C>T
ENST00000546302.5:c.385C>T ENSP00000445599.1:p.Gln129Ter
NM_000190.3:c.463C>T NP_000181.2:p.Gln155Ter
NM_001024382.1:c.412C>T NP_001019553.1:p.Gln138Ter
NM_001258208.1:c.463C>T NP_001245137.1:p.Gln155Ter
NM_001258209.1:c.412C>T NP_001245138.1:p.Gln138Ter
XM_005271531.1:c.412C>T XP_005271588.1:p.Gln138Ter
XM_005271532.1:c.412C>T XP_005271589.1:p.Gln138Ter
XM_005271533.2:c.409C>T XP_005271590.1:p.Gln137Ter
XM_011542796.1:c.298C>T XP_011541098.1:p.Gln100Ter
NM_000190.4:c.463C>T MANE Select NP_000181.2:p.Gln155Ter
NM_001024382.2:c.412C>T NP_001019553.1:p.Gln138Ter
XM_005271533.3:c.409C>T XP_005271590.1:p.Gln137Ter
XM_017017629.1:c.412C>T XP_016873118.1:p.Gln138Ter
XM_024448460.1:c.409C>T XP_024304228.1:p.Gln137Ter
NM_001258208.2:c.463C>T NP_001245137.1:p.Gln155Ter
NM_001258209.2:c.412C>T NP_001245138.1:p.Gln138Ter