Canonical Allele Identifier: CA382889813
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 1333909
ClinVar RCV Id: RCV001809124
dbSNP Id: rs1565754479

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119089238A>T , CM000673.2:g.119089238A>T GRCh38
NC_000011.9:g.118959948A>T , CM000673.1:g.118959948A>T GRCh37
NC_000011.8:g.118465158A>T NCBI36
NG_008093.1:g.9362A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.67A>T ENSP00000509288.1:p.Thr23Ser
ENST00000686690.1:n.853A>T
ENST00000691144.1:n.1973A>T
ENST00000691249.1:n.816A>T
ENST00000442944.7:c.214A>T ENSP00000392041.3:p.Thr72Ser
ENST00000534956.2:n.181A>T
ENST00000536813.6:c.181A>T ENSP00000438726.2:p.Thr61Ser
ENST00000546302.6:c.232A>T ENSP00000445599.1:p.Thr78Ser
ENST00000640813.1:c.181A>T ENSP00000491061.1:p.Thr61Ser
ENST00000648026.1:c.226A>T ENSP00000498044.1:p.Thr76Ser
ENST00000648374.1:c.181A>T ENSP00000497255.1:p.Thr61Ser
ENST00000648488.1:c.181A>T ENSP00000498079.1:p.Thr61Ser
ENST00000649823.1:n.449A>T
ENST00000649868.1:c.87A>T ENSP00000497548.1:p.Leu29Phe
ENST00000650101.1:c.163A>T ENSP00000496970.1:p.Thr55Ser
ENST00000650307.1:n.1058A>T
ENST00000652429.1:c.232A>T MANE Select ENSP00000498786.1:p.Thr78Ser
ENST00000278715.7:c.232A>T ENSP00000278715.3:p.Thr78Ser
ENST00000392841.1:c.181A>T ENSP00000376584.1:p.Thr61Ser
ENST00000442944.6:c.181A>T ENSP00000392041.2:p.Thr61Ser
ENST00000534956.1:n.148A>T
ENST00000535253.5:c.181A>T ENSP00000442079.1:p.Thr61Ser
ENST00000535793.5:c.*127A>T ENSP00000439904.1:n.*127A>T
ENST00000536185.5:n.350A>T
ENST00000536813.5:c.214A>T ENSP00000438726.1:p.Thr72Ser
ENST00000537841.5:c.181A>T ENSP00000444730.1:p.Thr61Ser
ENST00000539986.5:c.181A>T ENSP00000440092.1:p.Thr61Ser
ENST00000542044.5:n.677A>T
ENST00000542345.5:n.370A>T
ENST00000542729.5:c.181A>T ENSP00000443058.1:p.Thr61Ser
ENST00000542822.5:c.*168A>T ENSP00000444817.1:n.*168A>T
ENST00000543090.5:c.178A>T ENSP00000445429.1:p.Thr60Ser
ENST00000543543.5:n.467A>T
ENST00000543821.5:n.378A>T
ENST00000544360.5:n.200A>T
ENST00000544387.5:c.232A>T ENSP00000438424.1:p.Thr78Ser
ENST00000545621.5:c.*127A>T ENSP00000444849.1:n.*127A>T
ENST00000546226.5:n.291A>T
ENST00000546302.5:c.232A>T ENSP00000445599.1:p.Thr78Ser
NM_000190.3:c.232A>T NP_000181.2:p.Thr78Ser
NM_001024382.1:c.181A>T NP_001019553.1:p.Thr61Ser
NM_001258208.1:c.232A>T NP_001245137.1:p.Thr78Ser
NM_001258209.1:c.181A>T NP_001245138.1:p.Thr61Ser
XM_005271531.1:c.181A>T XP_005271588.1:p.Thr61Ser
XM_005271532.1:c.181A>T XP_005271589.1:p.Thr61Ser
XM_005271533.2:c.178A>T XP_005271590.1:p.Thr60Ser
XM_011542796.1:c.67A>T XP_011541098.1:p.Thr23Ser
NM_000190.4:c.232A>T MANE Select NP_000181.2:p.Thr78Ser
NM_001024382.2:c.181A>T NP_001019553.1:p.Thr61Ser
XM_005271533.3:c.178A>T XP_005271590.1:p.Thr60Ser
XM_017017629.1:c.181A>T XP_016873118.1:p.Thr61Ser
XM_024448460.1:c.178A>T XP_024304228.1:p.Thr60Ser
NM_001258208.2:c.232A>T NP_001245137.1:p.Thr78Ser
NM_001258209.2:c.181A>T NP_001245138.1:p.Thr61Ser