Canonical Allele Identifier: CA477369251
Gene: HMBS HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118963948C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093238C>G , CM000673.2:g.119093238C>G GRCh38
NC_000011.9:g.118963948C>G , CM000673.1:g.118963948C>G GRCh37
NC_000011.8:g.118469158C>G NCBI36
NG_008093.1:g.13362C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.876C>G ENSP00000509288.1:p.Ala292=
ENST00000691144.1:n.3256C>G
ENST00000691249.1:n.1865C>G
ENST00000442944.7:c.1023C>G ENSP00000392041.3:p.Ala341=
ENST00000640813.1:c.*278C>G ENSP00000491061.1:n.*278C>G
ENST00000648026.1:c.935C>G ENSP00000498044.1:n.935C>G
ENST00000648374.1:c.990C>G ENSP00000497255.1:p.Ala330=
ENST00000650101.1:c.972C>G ENSP00000496970.1:p.Ala324=
ENST00000650307.1:n.1867C>G
ENST00000652429.1:c.1041C>G MANE Select ENSP00000498786.1:p.Ala347=
ENST00000278715.7:c.1041C>G ENSP00000278715.3:p.Ala347=
ENST00000392841.1:c.990C>G ENSP00000376584.1:p.Ala330=
ENST00000442944.6:c.990C>G ENSP00000392041.2:p.Ala330=
ENST00000537841.5:c.990C>G ENSP00000444730.1:p.Ala330=
ENST00000539045.1:n.540C>G
ENST00000542044.5:n.1486C>G
ENST00000542729.5:c.870C>G ENSP00000443058.1:p.Ala290=
ENST00000543090.5:c.948C>G ENSP00000445429.1:p.Ala316=
ENST00000543543.5:n.1516C>G
ENST00000544182.1:n.1490C>G
ENST00000544387.5:c.921C>G ENSP00000438424.1:p.Ala307=
ENST00000546226.5:n.1803C>G
NM_000190.3:c.1041C>G NP_000181.2:p.Ala347=
NM_001024382.1:c.990C>G NP_001019553.1:p.Ala330=
NM_001258208.1:c.921C>G NP_001245137.1:p.Ala307=
NM_001258209.1:c.870C>G NP_001245138.1:p.Ala290=
XM_005271531.1:c.990C>G XP_005271588.1:p.Ala330=
XM_005271532.1:c.990C>G XP_005271589.1:p.Ala330=
XM_005271533.2:c.987C>G XP_005271590.1:p.Ala329=
XM_011542796.1:c.876C>G XP_011541098.1:p.Ala292=
NM_000190.4:c.1041C>G MANE Select NP_000181.2:p.Ala347=
NM_001024382.2:c.990C>G NP_001019553.1:p.Ala330=
XM_005271533.3:c.987C>G XP_005271590.1:p.Ala329=
XM_017017629.1:c.990C>G XP_016873118.1:p.Ala330=
XM_024448460.1:c.867C>G XP_024304228.1:p.Ala289=
NM_001258208.2:c.921C>G NP_001245137.1:p.Ala307=
NM_001258209.2:c.870C>G NP_001245138.1:p.Ala290=