Canonical Allele Identifier: CA477369274
Gene: HMBS HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.118963846A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093136A>T , CM000673.2:g.119093136A>T GRCh38
NC_000011.9:g.118963846A>T , CM000673.1:g.118963846A>T GRCh37
NC_000011.8:g.118469056A>T NCBI36
NG_008093.1:g.13260A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.774A>T ENSP00000509288.1:p.Pro258=
ENST00000691144.1:n.3154A>T
ENST00000691249.1:n.1763A>T
ENST00000442944.7:c.921A>T ENSP00000392041.3:p.Pro307=
ENST00000640813.1:c.*176A>T ENSP00000491061.1:n.*176A>T
ENST00000648026.1:c.833A>T ENSP00000498044.1:n.833A>T
ENST00000648374.1:c.888A>T ENSP00000497255.1:p.Pro296=
ENST00000650101.1:c.870A>T ENSP00000496970.1:p.Pro290=
ENST00000650307.1:n.1765A>T
ENST00000652429.1:c.939A>T MANE Select ENSP00000498786.1:p.Pro313=
ENST00000278715.7:c.939A>T ENSP00000278715.3:p.Pro313=
ENST00000392841.1:c.888A>T ENSP00000376584.1:p.Pro296=
ENST00000442944.6:c.888A>T ENSP00000392041.2:p.Pro296=
ENST00000537841.5:c.888A>T ENSP00000444730.1:p.Pro296=
ENST00000539045.1:n.438A>T
ENST00000542044.5:n.1384A>T
ENST00000542729.5:c.768A>T ENSP00000443058.1:p.Pro256=
ENST00000543090.5:c.846A>T ENSP00000445429.1:p.Pro282=
ENST00000543543.5:n.1414A>T
ENST00000544182.1:n.1388A>T
ENST00000544387.5:c.819A>T ENSP00000438424.1:p.Pro273=
ENST00000546226.5:n.1701A>T
NM_000190.3:c.939A>T NP_000181.2:p.Pro313=
NM_001024382.1:c.888A>T NP_001019553.1:p.Pro296=
NM_001258208.1:c.819A>T NP_001245137.1:p.Pro273=
NM_001258209.1:c.768A>T NP_001245138.1:p.Pro256=
XM_005271531.1:c.888A>T XP_005271588.1:p.Pro296=
XM_005271532.1:c.888A>T XP_005271589.1:p.Pro296=
XM_005271533.2:c.885A>T XP_005271590.1:p.Pro295=
XM_011542796.1:c.774A>T XP_011541098.1:p.Pro258=
NM_000190.4:c.939A>T MANE Select NP_000181.2:p.Pro313=
NM_001024382.2:c.888A>T NP_001019553.1:p.Pro296=
XM_005271533.3:c.885A>T XP_005271590.1:p.Pro295=
XM_017017629.1:c.888A>T XP_016873118.1:p.Pro296=
XM_024448460.1:c.765A>T XP_024304228.1:p.Pro255=
NM_001258208.2:c.819A>T NP_001245137.1:p.Pro273=
NM_001258209.2:c.768A>T NP_001245138.1:p.Pro256=