Canonical Allele Identifier: CA2003783647
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119091497C= , CM000673.2:g.119091497C= GRCh38
NC_000011.9:g.118962207C= , CM000673.1:g.118962207C= GRCh37
NC_000011.8:g.118467417C= NCBI36
NG_008093.1:g.11621C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000686218.1:c.418C= ENSP00000509288.1:p.Arg140=
ENST00000686690.1:n.1433C=
ENST00000691144.1:n.2324C=
ENST00000691249.1:n.1167C=
ENST00000442944.7:c.565C= ENSP00000392041.3:p.Arg189=
ENST00000534956.2:n.448-364C=
ENST00000536813.6:c.532C= ENSP00000438726.2:p.Arg178=
ENST00000546302.6:c.505C= ENSP00000445599.1:p.Arg169=
ENST00000640813.1:c.448-364C= ENSP00000491061.1:n.448-364C=
ENST00000648026.1:c.493-364C= ENSP00000498044.1:n.493-364C=
ENST00000648374.1:c.532C= ENSP00000497255.1:p.Arg178=
ENST00000648488.1:c.*85+241C= ENSP00000498079.1:n.*85+241C=
ENST00000649823.1:n.800C=
ENST00000649868.1:c.*207-364C= ENSP00000497548.1:n.*207-364C=
ENST00000650101.1:c.514C= ENSP00000496970.1:p.Arg172=
ENST00000650307.1:n.1409C=
ENST00000652429.1:c.583C= MANE Select ENSP00000498786.1:p.Arg195=
ENST00000278715.7:c.583C= ENSP00000278715.3:p.Arg195=
ENST00000392841.1:c.532C= ENSP00000376584.1:p.Arg178=
ENST00000442944.6:c.532C= ENSP00000392041.2:p.Arg178=
ENST00000534956.1:n.415-364C=
ENST00000535253.5:c.532C= ENSP00000442079.1:p.Arg178=
ENST00000535793.5:c.*478C= ENSP00000439904.1:n.*478C=
ENST00000537841.5:c.532C= ENSP00000444730.1:p.Arg178=
ENST00000539986.5:c.532C= ENSP00000440092.1:p.Arg178=
ENST00000542044.5:n.1028C=
ENST00000542345.5:n.721C=
ENST00000542729.5:c.532C= ENSP00000443058.1:p.Arg178=
ENST00000542822.5:c.*519C= ENSP00000444817.1:n.*519C=
ENST00000543090.5:c.529C= ENSP00000445429.1:p.Arg177=
ENST00000543543.5:n.818C=
ENST00000544360.5:n.551C=
ENST00000544387.5:c.583C= ENSP00000438424.1:p.Arg195=
ENST00000545621.5:c.*478C= ENSP00000444849.1:n.*478C=
ENST00000546226.5:n.871C=
ENST00000546302.5:c.505C= ENSP00000445599.1:p.Arg169=
NM_000190.3:c.583C= NP_000181.2:p.Arg195=
NM_001024382.1:c.532C= NP_001019553.1:p.Arg178=
NM_001258208.1:c.583C= NP_001245137.1:p.Arg195=
NM_001258209.1:c.532C= NP_001245138.1:p.Arg178=
XM_005271531.1:c.532C= XP_005271588.1:p.Arg178=
XM_005271532.1:c.532C= XP_005271589.1:p.Arg178=
XM_005271533.2:c.529C= XP_005271590.1:p.Arg177=
XM_011542796.1:c.418C= XP_011541098.1:p.Arg140=
NM_000190.4:c.583C= MANE Select NP_000181.2:p.Arg195=
NM_001024382.2:c.532C= NP_001019553.1:p.Arg178=
XM_005271533.3:c.529C= XP_005271590.1:p.Arg177=
XM_017017629.1:c.532C= XP_016873118.1:p.Arg178=
XM_024448460.1:c.529C= XP_024304228.1:p.Arg177=
NM_001258208.2:c.583C= NP_001245137.1:p.Arg195=
NM_001258209.2:c.532C= NP_001245138.1:p.Arg178=