Canonical Allele Identifier: CA2003782789
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119089715T= , CM000673.2:g.119089715T= GRCh38
NC_000011.9:g.118960425T= , CM000673.1:g.118960425T= GRCh37
NC_000011.8:g.118465635T= NCBI36
NG_008093.1:g.9839T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.134T= ENSP00000509288.1:p.Leu45=
ENST00000686690.1:n.920T=
ENST00000691144.1:n.2040T=
ENST00000691249.1:n.883T=
ENST00000442944.7:c.281T= ENSP00000392041.3:p.Leu94=
ENST00000534956.2:n.248T=
ENST00000536813.6:c.248T= ENSP00000438726.2:p.Leu83=
ENST00000546302.6:c.267-275T= ENSP00000445599.1:n.267-275T=
ENST00000640813.1:c.248T= ENSP00000491061.1:p.Leu83=
ENST00000648026.1:c.293T= ENSP00000498044.1:p.Leu98=
ENST00000648374.1:c.248T= ENSP00000497255.1:p.Leu83=
ENST00000648488.1:c.248T= ENSP00000498079.1:p.Leu83=
ENST00000649823.1:n.516T=
ENST00000649868.1:c.*7T= ENSP00000497548.1:n.*7T=
ENST00000650101.1:c.230T= ENSP00000496970.1:p.Leu77=
ENST00000650307.1:n.1125T=
ENST00000652429.1:c.299T= MANE Select ENSP00000498786.1:p.Leu100=
ENST00000278715.7:c.299T= ENSP00000278715.3:p.Leu100=
ENST00000392841.1:c.248T= ENSP00000376584.1:p.Leu83=
ENST00000442944.6:c.248T= ENSP00000392041.2:p.Leu83=
ENST00000534956.1:n.215T=
ENST00000535253.5:c.248T= ENSP00000442079.1:p.Leu83=
ENST00000535793.5:c.*194T= ENSP00000439904.1:n.*194T=
ENST00000536185.5:n.417T=
ENST00000536813.5:c.281T= ENSP00000438726.1:p.Leu94=
ENST00000537841.5:c.248T= ENSP00000444730.1:p.Leu83=
ENST00000539986.5:c.248T= ENSP00000440092.1:p.Leu83=
ENST00000542044.5:n.744T=
ENST00000542345.5:n.437T=
ENST00000542729.5:c.248T= ENSP00000443058.1:p.Leu83=
ENST00000542822.5:c.*235T= ENSP00000444817.1:n.*235T=
ENST00000543090.5:c.245T= ENSP00000445429.1:p.Leu82=
ENST00000543543.5:n.534T=
ENST00000543821.5:n.445T=
ENST00000544360.5:n.267T=
ENST00000544387.5:c.299T= ENSP00000438424.1:p.Leu100=
ENST00000545621.5:c.*194T= ENSP00000444849.1:n.*194T=
ENST00000546226.5:n.358T=
ENST00000546302.5:c.267-275T= ENSP00000445599.1:n.267-275T=
NM_000190.3:c.299T= NP_000181.2:p.Leu100=
NM_001024382.1:c.248T= NP_001019553.1:p.Leu83=
NM_001258208.1:c.299T= NP_001245137.1:p.Leu100=
NM_001258209.1:c.248T= NP_001245138.1:p.Leu83=
XM_005271531.1:c.248T= XP_005271588.1:p.Leu83=
XM_005271532.1:c.248T= XP_005271589.1:p.Leu83=
XM_005271533.2:c.245T= XP_005271590.1:p.Leu82=
XM_011542796.1:c.134T= XP_011541098.1:p.Leu45=
NM_000190.4:c.299T= MANE Select NP_000181.2:p.Leu100=
NM_001024382.2:c.248T= NP_001019553.1:p.Leu83=
XM_005271533.3:c.245T= XP_005271590.1:p.Leu82=
XM_017017629.1:c.248T= XP_016873118.1:p.Leu83=
XM_024448460.1:c.245T= XP_024304228.1:p.Leu82=
NM_001258208.2:c.299T= NP_001245137.1:p.Leu100=
NM_001258209.2:c.248T= NP_001245138.1:p.Leu83=