Canonical Allele Identifier: CA229596291
Gene: HMBS HGNC NCBI

Linked Data

ClinVar Variation Id: 689731
dbSNP Id: rs767103817

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000686218.1:c.490G>T ENSP00000509288.1:p.Ala164Ser
ENST00000691144.1:n.2636G>T
ENST00000691249.1:n.1479G>T
ENST00000442944.7:c.637G>T ENSP00000392041.3:p.Ala213Ser
ENST00000536813.6:c.604G>T ENSP00000438726.2:p.Ala202Ser
ENST00000640813.1:c.465G>T ENSP00000491061.1:p.Gly155=
ENST00000648026.1:c.549G>T ENSP00000498044.1:p.Gly183=
ENST00000648374.1:c.604G>T ENSP00000497255.1:p.Ala202Ser
ENST00000649823.1:n.1112G>T
ENST00000650101.1:c.586G>T ENSP00000496970.1:p.Ala196Ser
ENST00000650307.1:n.1481G>T
ENST00000652429.1:c.655G>T MANE Select ENSP00000498786.1:p.Ala219Ser
ENST00000278715.7:c.655G>T ENSP00000278715.3:p.Ala219Ser
ENST00000392841.1:c.604G>T ENSP00000376584.1:p.Ala202Ser
ENST00000442944.6:c.604G>T ENSP00000392041.2:p.Ala202Ser
ENST00000537841.5:c.604G>T ENSP00000444730.1:p.Ala202Ser
ENST00000542044.5:n.1100G>T
ENST00000542729.5:c.600+244G>T ENSP00000443058.1:n.600+244G>T
ENST00000543090.5:c.562G>T ENSP00000445429.1:p.Ala188Ser
ENST00000543543.5:n.1130G>T
ENST00000544182.1:n.870G>T
ENST00000544387.5:c.651+244G>T ENSP00000438424.1:n.651+244G>T
ENST00000545621.5:c.*790G>T ENSP00000444849.1:n.*790G>T
ENST00000546226.5:n.1183G>T
NM_000190.3:c.655G>T NP_000181.2:p.Ala219Ser
NM_001024382.1:c.604G>T NP_001019553.1:p.Ala202Ser
NM_001258208.1:c.651+244G>T NP_001245137.1:n.651+244G>T
NM_001258209.1:c.600+244G>T NP_001245138.1:n.600+244G>T
XM_005271531.1:c.604G>T XP_005271588.1:p.Ala202Ser
XM_005271532.1:c.604G>T XP_005271589.1:p.Ala202Ser
XM_005271533.2:c.601G>T XP_005271590.1:p.Ala201Ser
XM_011542796.1:c.490G>T XP_011541098.1:p.Ala164Ser
NM_000190.4:c.655G>T MANE Select NP_000181.2:p.Ala219Ser
NM_001024382.2:c.604G>T NP_001019553.1:p.Ala202Ser
XM_005271533.3:c.601G>T XP_005271590.1:p.Ala201Ser
XM_017017629.1:c.604G>T XP_016873118.1:p.Ala202Ser
XM_024448460.1:c.597+244G>T XP_024304228.1:n.597+244G>T
NM_001258208.2:c.651+244G>T NP_001245137.1:n.651+244G>T
NM_001258209.2:c.600+244G>T NP_001245138.1:n.600+244G>T