Canonical Allele Identifier: CA2003791737
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092497G= , CM000673.2:g.119092497G= GRCh38
NC_000011.9:g.118963207G= , CM000673.1:g.118963207G= GRCh37
NC_000011.8:g.118468417G= NCBI36
NG_008093.1:g.12621G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.580G= ENSP00000509288.1:p.Ala194=
ENST00000691144.1:n.2726G=
ENST00000691249.1:n.1569G=
ENST00000442944.7:c.727G= ENSP00000392041.3:p.Ala243=
ENST00000640813.1:c.555G= ENSP00000491061.1:p.Ser185=
ENST00000648026.1:c.639G= ENSP00000498044.1:p.Ser213=
ENST00000648374.1:c.694G= ENSP00000497255.1:p.Ala232=
ENST00000649823.1:n.1202G=
ENST00000650101.1:c.676G= ENSP00000496970.1:p.Ala226=
ENST00000650307.1:n.1571G=
ENST00000652429.1:c.745G= MANE Select ENSP00000498786.1:p.Ala249=
ENST00000278715.7:c.745G= ENSP00000278715.3:p.Ala249=
ENST00000392841.1:c.694G= ENSP00000376584.1:p.Ala232=
ENST00000442944.6:c.694G= ENSP00000392041.2:p.Ala232=
ENST00000537841.5:c.694G= ENSP00000444730.1:p.Ala232=
ENST00000542044.5:n.1190G=
ENST00000542729.5:c.601-261G= ENSP00000443058.1:n.601-261G=
ENST00000543090.5:c.652G= ENSP00000445429.1:p.Ala218=
ENST00000543543.5:n.1220G=
ENST00000544182.1:n.960G=
ENST00000544387.5:c.652-261G= ENSP00000438424.1:n.652-261G=
ENST00000545621.5:c.*880G= ENSP00000444849.1:n.*880G=
ENST00000546226.5:n.1273G=
NM_000190.3:c.745G= NP_000181.2:p.Ala249=
NM_001024382.1:c.694G= NP_001019553.1:p.Ala232=
NM_001258208.1:c.652-261G= NP_001245137.1:n.652-261G=
NM_001258209.1:c.601-261G= NP_001245138.1:n.601-261G=
XM_005271531.1:c.694G= XP_005271588.1:p.Ala232=
XM_005271532.1:c.694G= XP_005271589.1:p.Ala232=
XM_005271533.2:c.691G= XP_005271590.1:p.Ala231=
XM_011542796.1:c.580G= XP_011541098.1:p.Ala194=
NM_000190.4:c.745G= MANE Select NP_000181.2:p.Ala249=
NM_001024382.2:c.694G= NP_001019553.1:p.Ala232=
XM_005271533.3:c.691G= XP_005271590.1:p.Ala231=
XM_017017629.1:c.694G= XP_016873118.1:p.Ala232=
XM_024448460.1:c.598-261G= XP_024304228.1:n.598-261G=
NM_001258208.2:c.652-261G= NP_001245137.1:n.652-261G=
NM_001258209.2:c.601-261G= NP_001245138.1:n.601-261G=