Canonical Allele Identifier: CA229597332
Gene: HMBS HGNC NCBI

Linked Data

dbSNP Id: rs894336655

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093176C>T , CM000673.2:g.119093176C>T GRCh38
NC_000011.9:g.118963886C>T , CM000673.1:g.118963886C>T GRCh37
NC_000011.8:g.118469096C>T NCBI36
NG_008093.1:g.13300C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.814C>T ENSP00000509288.1:p.Pro272Ser
ENST00000691144.1:n.3194C>T
ENST00000691249.1:n.1803C>T
ENST00000442944.7:c.961C>T ENSP00000392041.3:p.Pro321Ser
ENST00000640813.1:c.*216C>T ENSP00000491061.1:n.*216C>T
ENST00000648026.1:c.873C>T ENSP00000498044.1:n.873C>T
ENST00000648374.1:c.928C>T ENSP00000497255.1:p.Pro310Ser
ENST00000650101.1:c.910C>T ENSP00000496970.1:p.Pro304Ser
ENST00000650307.1:n.1805C>T
ENST00000652429.1:c.979C>T MANE Select ENSP00000498786.1:p.Pro327Ser
ENST00000278715.7:c.979C>T ENSP00000278715.3:p.Pro327Ser
ENST00000392841.1:c.928C>T ENSP00000376584.1:p.Pro310Ser
ENST00000442944.6:c.928C>T ENSP00000392041.2:p.Pro310Ser
ENST00000537841.5:c.928C>T ENSP00000444730.1:p.Pro310Ser
ENST00000539045.1:n.478C>T
ENST00000542044.5:n.1424C>T
ENST00000542729.5:c.808C>T ENSP00000443058.1:p.Pro270Ser
ENST00000543090.5:c.886C>T ENSP00000445429.1:p.Pro296Ser
ENST00000543543.5:n.1454C>T
ENST00000544182.1:n.1428C>T
ENST00000544387.5:c.859C>T ENSP00000438424.1:p.Pro287Ser
ENST00000546226.5:n.1741C>T
NM_000190.3:c.979C>T NP_000181.2:p.Pro327Ser
NM_001024382.1:c.928C>T NP_001019553.1:p.Pro310Ser
NM_001258208.1:c.859C>T NP_001245137.1:p.Pro287Ser
NM_001258209.1:c.808C>T NP_001245138.1:p.Pro270Ser
XM_005271531.1:c.928C>T XP_005271588.1:p.Pro310Ser
XM_005271532.1:c.928C>T XP_005271589.1:p.Pro310Ser
XM_005271533.2:c.925C>T XP_005271590.1:p.Pro309Ser
XM_011542796.1:c.814C>T XP_011541098.1:p.Pro272Ser
NM_000190.4:c.979C>T MANE Select NP_000181.2:p.Pro327Ser
NM_001024382.2:c.928C>T NP_001019553.1:p.Pro310Ser
XM_005271533.3:c.925C>T XP_005271590.1:p.Pro309Ser
XM_017017629.1:c.928C>T XP_016873118.1:p.Pro310Ser
XM_024448460.1:c.805C>T XP_024304228.1:p.Pro269Ser
NM_001258208.2:c.859C>T NP_001245137.1:p.Pro287Ser
NM_001258209.2:c.808C>T NP_001245138.1:p.Pro270Ser