Canonical Allele Identifier: CA477369349
Gene: HMBS HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118963924C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093214C>G , CM000673.2:g.119093214C>G GRCh38
NC_000011.9:g.118963924C>G , CM000673.1:g.118963924C>G GRCh37
NC_000011.8:g.118469134C>G NCBI36
NG_008093.1:g.13338C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.852C>G ENSP00000509288.1:p.Ala284=
ENST00000691144.1:n.3232C>G
ENST00000691249.1:n.1841C>G
ENST00000442944.7:c.999C>G ENSP00000392041.3:p.Ala333=
ENST00000640813.1:c.*254C>G ENSP00000491061.1:n.*254C>G
ENST00000648026.1:c.911C>G ENSP00000498044.1:n.911C>G
ENST00000648374.1:c.966C>G ENSP00000497255.1:p.Ala322=
ENST00000650101.1:c.948C>G ENSP00000496970.1:p.Ala316=
ENST00000650307.1:n.1843C>G
ENST00000652429.1:c.1017C>G MANE Select ENSP00000498786.1:p.Ala339=
ENST00000278715.7:c.1017C>G ENSP00000278715.3:p.Ala339=
ENST00000392841.1:c.966C>G ENSP00000376584.1:p.Ala322=
ENST00000442944.6:c.966C>G ENSP00000392041.2:p.Ala322=
ENST00000537841.5:c.966C>G ENSP00000444730.1:p.Ala322=
ENST00000539045.1:n.516C>G
ENST00000542044.5:n.1462C>G
ENST00000542729.5:c.846C>G ENSP00000443058.1:p.Ala282=
ENST00000543090.5:c.924C>G ENSP00000445429.1:p.Ala308=
ENST00000543543.5:n.1492C>G
ENST00000544182.1:n.1466C>G
ENST00000544387.5:c.897C>G ENSP00000438424.1:p.Ala299=
ENST00000546226.5:n.1779C>G
NM_000190.3:c.1017C>G NP_000181.2:p.Ala339=
NM_001024382.1:c.966C>G NP_001019553.1:p.Ala322=
NM_001258208.1:c.897C>G NP_001245137.1:p.Ala299=
NM_001258209.1:c.846C>G NP_001245138.1:p.Ala282=
XM_005271531.1:c.966C>G XP_005271588.1:p.Ala322=
XM_005271532.1:c.966C>G XP_005271589.1:p.Ala322=
XM_005271533.2:c.963C>G XP_005271590.1:p.Ala321=
XM_011542796.1:c.852C>G XP_011541098.1:p.Ala284=
NM_000190.4:c.1017C>G MANE Select NP_000181.2:p.Ala339=
NM_001024382.2:c.966C>G NP_001019553.1:p.Ala322=
XM_005271533.3:c.963C>G XP_005271590.1:p.Ala321=
XM_017017629.1:c.966C>G XP_016873118.1:p.Ala322=
XM_024448460.1:c.843C>G XP_024304228.1:p.Ala281=
NM_001258208.2:c.897C>G NP_001245137.1:p.Ala299=
NM_001258209.2:c.846C>G NP_001245138.1:p.Ala282=