Canonical Allele Identifier: CA6314160
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs768973838

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092467C>T , CM000673.2:g.119092467C>T GRCh38
NC_000011.9:g.118963177C>T , CM000673.1:g.118963177C>T GRCh37
NC_000011.8:g.118468387C>T NCBI36
NG_008093.1:g.12591C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.550C>T ENSP00000509288.1:p.His184Tyr
ENST00000691144.1:n.2696C>T
ENST00000691249.1:n.1539C>T
ENST00000442944.7:c.697C>T ENSP00000392041.3:p.His233Tyr
ENST00000536813.6:c.664C>T ENSP00000438726.2:p.His222Tyr
ENST00000640813.1:c.525C>T ENSP00000491061.1:p.Cys175=
ENST00000648026.1:c.609C>T ENSP00000498044.1:p.Cys203=
ENST00000648374.1:c.664C>T ENSP00000497255.1:p.His222Tyr
ENST00000649823.1:n.1172C>T
ENST00000650101.1:c.646C>T ENSP00000496970.1:p.His216Tyr
ENST00000650307.1:n.1541C>T
ENST00000652429.1:c.715C>T MANE Select ENSP00000498786.1:p.His239Tyr
ENST00000278715.7:c.715C>T ENSP00000278715.3:p.His239Tyr
ENST00000392841.1:c.664C>T ENSP00000376584.1:p.His222Tyr
ENST00000442944.6:c.664C>T ENSP00000392041.2:p.His222Tyr
ENST00000537841.5:c.664C>T ENSP00000444730.1:p.His222Tyr
ENST00000542044.5:n.1160C>T
ENST00000542729.5:c.601-291C>T ENSP00000443058.1:n.601-291C>T
ENST00000543090.5:c.622C>T ENSP00000445429.1:p.His208Tyr
ENST00000543543.5:n.1190C>T
ENST00000544182.1:n.930C>T
ENST00000544387.5:c.652-291C>T ENSP00000438424.1:n.652-291C>T
ENST00000545621.5:c.*850C>T ENSP00000444849.1:n.*850C>T
ENST00000546226.5:n.1243C>T
NM_000190.3:c.715C>T NP_000181.2:p.His239Tyr
NM_001024382.1:c.664C>T NP_001019553.1:p.His222Tyr
NM_001258208.1:c.652-291C>T NP_001245137.1:n.652-291C>T
NM_001258209.1:c.601-291C>T NP_001245138.1:n.601-291C>T
XM_005271531.1:c.664C>T XP_005271588.1:p.His222Tyr
XM_005271532.1:c.664C>T XP_005271589.1:p.His222Tyr
XM_005271533.2:c.661C>T XP_005271590.1:p.His221Tyr
XM_011542796.1:c.550C>T XP_011541098.1:p.His184Tyr
NM_000190.4:c.715C>T MANE Select NP_000181.2:p.His239Tyr
NM_001024382.2:c.664C>T NP_001019553.1:p.His222Tyr
XM_005271533.3:c.661C>T XP_005271590.1:p.His221Tyr
XM_017017629.1:c.664C>T XP_016873118.1:p.His222Tyr
XM_024448460.1:c.598-291C>T XP_024304228.1:n.598-291C>T
NM_001258208.2:c.652-291C>T NP_001245137.1:n.652-291C>T
NM_001258209.2:c.601-291C>T NP_001245138.1:n.601-291C>T