Canonical Allele Identifier: CA2003793504
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093251G= , CM000673.2:g.119093251G= GRCh38
NC_000011.9:g.118963961G= , CM000673.1:g.118963961G= GRCh37
NC_000011.8:g.118469171G= NCBI36
NG_008093.1:g.13375G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.889G= ENSP00000509288.1:p.Asp297=
ENST00000691144.1:n.3269G=
ENST00000691249.1:n.1878G=
ENST00000442944.7:c.1036G= ENSP00000392041.3:p.Asp346=
ENST00000640813.1:c.*291G= ENSP00000491061.1:n.*291G=
ENST00000648026.1:c.948G= ENSP00000498044.1:n.948G=
ENST00000648374.1:c.1003G= ENSP00000497255.1:p.Asp335=
ENST00000650101.1:c.985G= ENSP00000496970.1:p.Asp329=
ENST00000650307.1:n.1880G=
ENST00000652429.1:c.1054G= MANE Select ENSP00000498786.1:p.Asp352=
ENST00000278715.7:c.1054G= ENSP00000278715.3:p.Asp352=
ENST00000392841.1:c.1003G= ENSP00000376584.1:p.Asp335=
ENST00000442944.6:c.1003G= ENSP00000392041.2:p.Asp335=
ENST00000537841.5:c.1003G= ENSP00000444730.1:p.Asp335=
ENST00000539045.1:n.553G=
ENST00000542044.5:n.1499G=
ENST00000542729.5:c.883G= ENSP00000443058.1:p.Asp295=
ENST00000543090.5:c.961G= ENSP00000445429.1:p.Asp321=
ENST00000543543.5:n.1529G=
ENST00000544182.1:n.1503G=
ENST00000544387.5:c.934G= ENSP00000438424.1:p.Asp312=
ENST00000546226.5:n.1816G=
NM_000190.3:c.1054G= NP_000181.2:p.Asp352=
NM_001024382.1:c.1003G= NP_001019553.1:p.Asp335=
NM_001258208.1:c.934G= NP_001245137.1:p.Asp312=
NM_001258209.1:c.883G= NP_001245138.1:p.Asp295=
XM_005271531.1:c.1003G= XP_005271588.1:p.Asp335=
XM_005271532.1:c.1003G= XP_005271589.1:p.Asp335=
XM_005271533.2:c.1000G= XP_005271590.1:p.Asp334=
XM_011542796.1:c.889G= XP_011541098.1:p.Asp297=
NM_000190.4:c.1054G= MANE Select NP_000181.2:p.Asp352=
NM_001024382.2:c.1003G= NP_001019553.1:p.Asp335=
XM_005271533.3:c.1000G= XP_005271590.1:p.Asp334=
XM_017017629.1:c.1003G= XP_016873118.1:p.Asp335=
XM_024448460.1:c.880G= XP_024304228.1:p.Asp294=
NM_001258208.2:c.934G= NP_001245137.1:p.Asp312=
NM_001258209.2:c.883G= NP_001245138.1:p.Asp295=