Canonical Allele Identifier: CA6314150
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 422257
ClinVar RCV Id: RCV000484759
dbSNP Id: rs767103817

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092407G>A , CM000673.2:g.119092407G>A GRCh38
NC_000011.9:g.118963117G>A , CM000673.1:g.118963117G>A GRCh37
NC_000011.8:g.118468327G>A NCBI36
NG_008093.1:g.12531G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.490G>A ENSP00000509288.1:p.Ala164Thr
ENST00000691144.1:n.2636G>A
ENST00000691249.1:n.1479G>A
ENST00000442944.7:c.637G>A ENSP00000392041.3:p.Ala213Thr
ENST00000536813.6:c.604G>A ENSP00000438726.2:p.Ala202Thr
ENST00000640813.1:c.465G>A ENSP00000491061.1:p.Gly155=
ENST00000648026.1:c.549G>A ENSP00000498044.1:p.Gly183=
ENST00000648374.1:c.604G>A ENSP00000497255.1:p.Ala202Thr
ENST00000649823.1:n.1112G>A
ENST00000650101.1:c.586G>A ENSP00000496970.1:p.Ala196Thr
ENST00000650307.1:n.1481G>A
ENST00000652429.1:c.655G>A MANE Select ENSP00000498786.1:p.Ala219Thr
ENST00000278715.7:c.655G>A ENSP00000278715.3:p.Ala219Thr
ENST00000392841.1:c.604G>A ENSP00000376584.1:p.Ala202Thr
ENST00000442944.6:c.604G>A ENSP00000392041.2:p.Ala202Thr
ENST00000537841.5:c.604G>A ENSP00000444730.1:p.Ala202Thr
ENST00000542044.5:n.1100G>A
ENST00000542729.5:c.600+244G>A ENSP00000443058.1:n.600+244G>A
ENST00000543090.5:c.562G>A ENSP00000445429.1:p.Ala188Thr
ENST00000543543.5:n.1130G>A
ENST00000544182.1:n.870G>A
ENST00000544387.5:c.651+244G>A ENSP00000438424.1:n.651+244G>A
ENST00000545621.5:c.*790G>A ENSP00000444849.1:n.*790G>A
ENST00000546226.5:n.1183G>A
NM_000190.3:c.655G>A NP_000181.2:p.Ala219Thr
NM_001024382.1:c.604G>A NP_001019553.1:p.Ala202Thr
NM_001258208.1:c.651+244G>A NP_001245137.1:n.651+244G>A
NM_001258209.1:c.600+244G>A NP_001245138.1:n.600+244G>A
XM_005271531.1:c.604G>A XP_005271588.1:p.Ala202Thr
XM_005271532.1:c.604G>A XP_005271589.1:p.Ala202Thr
XM_005271533.2:c.601G>A XP_005271590.1:p.Ala201Thr
XM_011542796.1:c.490G>A XP_011541098.1:p.Ala164Thr
NM_000190.4:c.655G>A MANE Select NP_000181.2:p.Ala219Thr
NM_001024382.2:c.604G>A NP_001019553.1:p.Ala202Thr
XM_005271533.3:c.601G>A XP_005271590.1:p.Ala201Thr
XM_017017629.1:c.604G>A XP_016873118.1:p.Ala202Thr
XM_024448460.1:c.597+244G>A XP_024304228.1:n.597+244G>A
NM_001258208.2:c.651+244G>A NP_001245137.1:n.651+244G>A
NM_001258209.2:c.600+244G>A NP_001245138.1:n.600+244G>A