Canonical Allele Identifier: CA477369245
Gene: HMBS HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118963942A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093232A>G , CM000673.2:g.119093232A>G GRCh38
NC_000011.9:g.118963942A>G , CM000673.1:g.118963942A>G GRCh37
NC_000011.8:g.118469152A>G NCBI36
NG_008093.1:g.13356A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.870A>G ENSP00000509288.1:p.Lys290=
ENST00000691144.1:n.3250A>G
ENST00000691249.1:n.1859A>G
ENST00000442944.7:c.1017A>G ENSP00000392041.3:p.Lys339=
ENST00000640813.1:c.*272A>G ENSP00000491061.1:n.*272A>G
ENST00000648026.1:c.929A>G ENSP00000498044.1:n.929A>G
ENST00000648374.1:c.984A>G ENSP00000497255.1:p.Lys328=
ENST00000650101.1:c.966A>G ENSP00000496970.1:p.Lys322=
ENST00000650307.1:n.1861A>G
ENST00000652429.1:c.1035A>G MANE Select ENSP00000498786.1:p.Lys345=
ENST00000278715.7:c.1035A>G ENSP00000278715.3:p.Lys345=
ENST00000392841.1:c.984A>G ENSP00000376584.1:p.Lys328=
ENST00000442944.6:c.984A>G ENSP00000392041.2:p.Lys328=
ENST00000537841.5:c.984A>G ENSP00000444730.1:p.Lys328=
ENST00000539045.1:n.534A>G
ENST00000542044.5:n.1480A>G
ENST00000542729.5:c.864A>G ENSP00000443058.1:p.Lys288=
ENST00000543090.5:c.942A>G ENSP00000445429.1:p.Lys314=
ENST00000543543.5:n.1510A>G
ENST00000544182.1:n.1484A>G
ENST00000544387.5:c.915A>G ENSP00000438424.1:p.Lys305=
ENST00000546226.5:n.1797A>G
NM_000190.3:c.1035A>G NP_000181.2:p.Lys345=
NM_001024382.1:c.984A>G NP_001019553.1:p.Lys328=
NM_001258208.1:c.915A>G NP_001245137.1:p.Lys305=
NM_001258209.1:c.864A>G NP_001245138.1:p.Lys288=
XM_005271531.1:c.984A>G XP_005271588.1:p.Lys328=
XM_005271532.1:c.984A>G XP_005271589.1:p.Lys328=
XM_005271533.2:c.981A>G XP_005271590.1:p.Lys327=
XM_011542796.1:c.870A>G XP_011541098.1:p.Lys290=
NM_000190.4:c.1035A>G MANE Select NP_000181.2:p.Lys345=
NM_001024382.2:c.984A>G NP_001019553.1:p.Lys328=
XM_005271533.3:c.981A>G XP_005271590.1:p.Lys327=
XM_017017629.1:c.984A>G XP_016873118.1:p.Lys328=
XM_024448460.1:c.861A>G XP_024304228.1:p.Lys287=
NM_001258208.2:c.915A>G NP_001245137.1:p.Lys305=
NM_001258209.2:c.864A>G NP_001245138.1:p.Lys288=