Canonical Allele Identifier: CA2003793278
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093144T= , CM000673.2:g.119093144T= GRCh38
NC_000011.9:g.118963854T= , CM000673.1:g.118963854T= GRCh37
NC_000011.8:g.118469064T= NCBI36
NG_008093.1:g.13268T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.782T= ENSP00000509288.1:p.Val261=
ENST00000691144.1:n.3162T=
ENST00000691249.1:n.1771T=
ENST00000442944.7:c.929T= ENSP00000392041.3:p.Val310=
ENST00000640813.1:c.*184T= ENSP00000491061.1:n.*184T=
ENST00000648026.1:c.841T= ENSP00000498044.1:n.841T=
ENST00000648374.1:c.896T= ENSP00000497255.1:p.Val299=
ENST00000650101.1:c.878T= ENSP00000496970.1:p.Val293=
ENST00000650307.1:n.1773T=
ENST00000652429.1:c.947T= MANE Select ENSP00000498786.1:p.Val316=
ENST00000278715.7:c.947T= ENSP00000278715.3:p.Val316=
ENST00000392841.1:c.896T= ENSP00000376584.1:p.Val299=
ENST00000442944.6:c.896T= ENSP00000392041.2:p.Val299=
ENST00000537841.5:c.896T= ENSP00000444730.1:p.Val299=
ENST00000539045.1:n.446T=
ENST00000542044.5:n.1392T=
ENST00000542729.5:c.776T= ENSP00000443058.1:p.Val259=
ENST00000543090.5:c.854T= ENSP00000445429.1:p.Val285=
ENST00000543543.5:n.1422T=
ENST00000544182.1:n.1396T=
ENST00000544387.5:c.827T= ENSP00000438424.1:p.Val276=
ENST00000546226.5:n.1709T=
NM_000190.3:c.947T= NP_000181.2:p.Val316=
NM_001024382.1:c.896T= NP_001019553.1:p.Val299=
NM_001258208.1:c.827T= NP_001245137.1:p.Val276=
NM_001258209.1:c.776T= NP_001245138.1:p.Val259=
XM_005271531.1:c.896T= XP_005271588.1:p.Val299=
XM_005271532.1:c.896T= XP_005271589.1:p.Val299=
XM_005271533.2:c.893T= XP_005271590.1:p.Val298=
XM_011542796.1:c.782T= XP_011541098.1:p.Val261=
NM_000190.4:c.947T= MANE Select NP_000181.2:p.Val316=
NM_001024382.2:c.896T= NP_001019553.1:p.Val299=
XM_005271533.3:c.893T= XP_005271590.1:p.Val298=
XM_017017629.1:c.896T= XP_016873118.1:p.Val299=
XM_024448460.1:c.773T= XP_024304228.1:p.Val258=
NM_001258208.2:c.827T= NP_001245137.1:p.Val276=
NM_001258209.2:c.776T= NP_001245138.1:p.Val259=