Canonical Allele Identifier: CA477129986
Gene: HMBS HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118963674A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092964A>G , CM000673.2:g.119092964A>G GRCh38
NC_000011.9:g.118963674A>G , CM000673.1:g.118963674A>G GRCh37
NC_000011.8:g.118468884A>G NCBI36
NG_008093.1:g.13088A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.690A>G ENSP00000509288.1:p.Leu230=
ENST00000691144.1:n.3070A>G
ENST00000691249.1:n.1679A>G
ENST00000442944.7:c.837A>G ENSP00000392041.3:p.Leu279=
ENST00000640813.1:c.*92A>G ENSP00000491061.1:n.*92A>G
ENST00000648026.1:c.749A>G ENSP00000498044.1:n.749A>G
ENST00000648374.1:c.804A>G ENSP00000497255.1:p.Leu268=
ENST00000650101.1:c.786A>G ENSP00000496970.1:p.Leu262=
ENST00000650307.1:n.1681A>G
ENST00000652429.1:c.855A>G MANE Select ENSP00000498786.1:p.Leu285=
ENST00000278715.7:c.855A>G ENSP00000278715.3:p.Leu285=
ENST00000392841.1:c.804A>G ENSP00000376584.1:p.Leu268=
ENST00000442944.6:c.804A>G ENSP00000392041.2:p.Leu268=
ENST00000537841.5:c.804A>G ENSP00000444730.1:p.Leu268=
ENST00000539045.1:n.354A>G
ENST00000542044.5:n.1300A>G
ENST00000542729.5:c.684A>G ENSP00000443058.1:p.Leu228=
ENST00000543090.5:c.762A>G ENSP00000445429.1:p.Leu254=
ENST00000543543.5:n.1330A>G
ENST00000544182.1:n.1304A>G
ENST00000544387.5:c.735A>G ENSP00000438424.1:p.Leu245=
ENST00000546226.5:n.1617A>G
NM_000190.3:c.855A>G NP_000181.2:p.Leu285=
NM_001024382.1:c.804A>G NP_001019553.1:p.Leu268=
NM_001258208.1:c.735A>G NP_001245137.1:p.Leu245=
NM_001258209.1:c.684A>G NP_001245138.1:p.Leu228=
XM_005271531.1:c.804A>G XP_005271588.1:p.Leu268=
XM_005271532.1:c.804A>G XP_005271589.1:p.Leu268=
XM_005271533.2:c.801A>G XP_005271590.1:p.Leu267=
XM_011542796.1:c.690A>G XP_011541098.1:p.Leu230=
NM_000190.4:c.855A>G MANE Select NP_000181.2:p.Leu285=
NM_001024382.2:c.804A>G NP_001019553.1:p.Leu268=
XM_005271533.3:c.801A>G XP_005271590.1:p.Leu267=
XM_017017629.1:c.804A>G XP_016873118.1:p.Leu268=
XM_024448460.1:c.681A>G XP_024304228.1:p.Leu227=
NM_001258208.2:c.735A>G NP_001245137.1:p.Leu245=
NM_001258209.2:c.684A>G NP_001245138.1:p.Leu228=