Canonical Allele Identifier: CA2003793434
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093220G= , CM000673.2:g.119093220G= GRCh38
NC_000011.9:g.118963930G= , CM000673.1:g.118963930G= GRCh37
NC_000011.8:g.118469140G= NCBI36
NG_008093.1:g.13344G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.858G= ENSP00000509288.1:p.Leu286=
ENST00000691144.1:n.3238G=
ENST00000691249.1:n.1847G=
ENST00000442944.7:c.1005G= ENSP00000392041.3:p.Leu335=
ENST00000640813.1:c.*260G= ENSP00000491061.1:n.*260G=
ENST00000648026.1:c.917G= ENSP00000498044.1:n.917G=
ENST00000648374.1:c.972G= ENSP00000497255.1:p.Leu324=
ENST00000650101.1:c.954G= ENSP00000496970.1:p.Leu318=
ENST00000650307.1:n.1849G=
ENST00000652429.1:c.1023G= MANE Select ENSP00000498786.1:p.Leu341=
ENST00000278715.7:c.1023G= ENSP00000278715.3:p.Leu341=
ENST00000392841.1:c.972G= ENSP00000376584.1:p.Leu324=
ENST00000442944.6:c.972G= ENSP00000392041.2:p.Leu324=
ENST00000537841.5:c.972G= ENSP00000444730.1:p.Leu324=
ENST00000539045.1:n.522G=
ENST00000542044.5:n.1468G=
ENST00000542729.5:c.852G= ENSP00000443058.1:p.Leu284=
ENST00000543090.5:c.930G= ENSP00000445429.1:p.Leu310=
ENST00000543543.5:n.1498G=
ENST00000544182.1:n.1472G=
ENST00000544387.5:c.903G= ENSP00000438424.1:p.Leu301=
ENST00000546226.5:n.1785G=
NM_000190.3:c.1023G= NP_000181.2:p.Leu341=
NM_001024382.1:c.972G= NP_001019553.1:p.Leu324=
NM_001258208.1:c.903G= NP_001245137.1:p.Leu301=
NM_001258209.1:c.852G= NP_001245138.1:p.Leu284=
XM_005271531.1:c.972G= XP_005271588.1:p.Leu324=
XM_005271532.1:c.972G= XP_005271589.1:p.Leu324=
XM_005271533.2:c.969G= XP_005271590.1:p.Leu323=
XM_011542796.1:c.858G= XP_011541098.1:p.Leu286=
NM_000190.4:c.1023G= MANE Select NP_000181.2:p.Leu341=
NM_001024382.2:c.972G= NP_001019553.1:p.Leu324=
XM_005271533.3:c.969G= XP_005271590.1:p.Leu323=
XM_017017629.1:c.972G= XP_016873118.1:p.Leu324=
XM_024448460.1:c.849G= XP_024304228.1:p.Leu283=
NM_001258208.2:c.903G= NP_001245137.1:p.Leu301=
NM_001258209.2:c.852G= NP_001245138.1:p.Leu284=