Canonical Allele Identifier: CA2003792913
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093010G= , CM000673.2:g.119093010G= GRCh38
NC_000011.9:g.118963720G= , CM000673.1:g.118963720G= GRCh37
NC_000011.8:g.118468930G= NCBI36
NG_008093.1:g.13134G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.736G= ENSP00000509288.1:p.Val246=
ENST00000691144.1:n.3116G=
ENST00000691249.1:n.1725G=
ENST00000442944.7:c.883G= ENSP00000392041.3:p.Val295=
ENST00000640813.1:c.*138G= ENSP00000491061.1:n.*138G=
ENST00000648026.1:c.795G= ENSP00000498044.1:n.795G=
ENST00000648374.1:c.850G= ENSP00000497255.1:p.Val284=
ENST00000650101.1:c.832G= ENSP00000496970.1:p.Val278=
ENST00000650307.1:n.1727G=
ENST00000652429.1:c.901G= MANE Select ENSP00000498786.1:p.Val301=
ENST00000278715.7:c.901G= ENSP00000278715.3:p.Val301=
ENST00000392841.1:c.850G= ENSP00000376584.1:p.Val284=
ENST00000442944.6:c.850G= ENSP00000392041.2:p.Val284=
ENST00000537841.5:c.850G= ENSP00000444730.1:p.Val284=
ENST00000539045.1:n.400G=
ENST00000542044.5:n.1346G=
ENST00000542729.5:c.730G= ENSP00000443058.1:p.Val244=
ENST00000543090.5:c.808G= ENSP00000445429.1:p.Val270=
ENST00000543543.5:n.1376G=
ENST00000544182.1:n.1350G=
ENST00000544387.5:c.781G= ENSP00000438424.1:p.Val261=
ENST00000546226.5:n.1663G=
NM_000190.3:c.901G= NP_000181.2:p.Val301=
NM_001024382.1:c.850G= NP_001019553.1:p.Val284=
NM_001258208.1:c.781G= NP_001245137.1:p.Val261=
NM_001258209.1:c.730G= NP_001245138.1:p.Val244=
XM_005271531.1:c.850G= XP_005271588.1:p.Val284=
XM_005271532.1:c.850G= XP_005271589.1:p.Val284=
XM_005271533.2:c.847G= XP_005271590.1:p.Val283=
XM_011542796.1:c.736G= XP_011541098.1:p.Val246=
NM_000190.4:c.901G= MANE Select NP_000181.2:p.Val301=
NM_001024382.2:c.850G= NP_001019553.1:p.Val284=
XM_005271533.3:c.847G= XP_005271590.1:p.Val283=
XM_017017629.1:c.850G= XP_016873118.1:p.Val284=
XM_024448460.1:c.727G= XP_024304228.1:p.Val243=
NM_001258208.2:c.781G= NP_001245137.1:p.Val261=
NM_001258209.2:c.730G= NP_001245138.1:p.Val244=