Canonical Allele Identifier: CA2003783609
Community Standard Title: NM_000190.4(HMBS):c.500G= (p.Arg167=)
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119091414G= , CM000673.2:g.119091414G= GRCh38
NC_000011.9:g.118962124G= , CM000673.1:g.118962124G= GRCh37
NC_000011.8:g.118467334G= NCBI36
NG_008093.1:g.11538G=

Transcript Alleles

HGVS Amino-acid Change
NM_000190.4:c.500G= MANE Select NP_000181.2:p.Arg167=
ENST00000652429.1:c.500G= MANE Select ENSP00000498786.1:p.Arg167=
NM_000190.3:c.500G= NP_000181.2:p.Arg167=
NM_001024382.1:c.449G= NP_001019553.1:p.Arg150=
NM_001024382.2:c.449G= NP_001019553.1:p.Arg150=
NM_001258208.1:c.500G= NP_001245137.1:p.Arg167=
NM_001258208.2:c.500G= NP_001245137.1:p.Arg167=
NM_001258209.1:c.449G= NP_001245138.1:p.Arg150=
NM_001258209.2:c.449G= NP_001245138.1:p.Arg150=
ENST00000278715.7:c.500G= ENSP00000278715.3:p.Arg167=
ENST00000392841.1:c.449G= ENSP00000376584.1:p.Arg150=
ENST00000442944.6:c.449G= ENSP00000392041.2:p.Arg150=
ENST00000442944.7:c.482G= ENSP00000392041.3:p.Arg161=
ENST00000534956.1:n.415-447G=
ENST00000534956.2:n.448-447G=
ENST00000535253.5:c.449G= ENSP00000442079.1:p.Arg150=
ENST00000535793.5:c.*395G= ENSP00000439904.1:n.*395G=
ENST00000536813.6:c.449G= ENSP00000438726.2:p.Arg150=
ENST00000537841.5:c.449G= ENSP00000444730.1:p.Arg150=
ENST00000539986.5:c.449G= ENSP00000440092.1:p.Arg150=
ENST00000542044.5:n.945G=
ENST00000542345.5:n.638G=
ENST00000542729.5:c.449G= ENSP00000443058.1:p.Arg150=
ENST00000542822.5:c.*436G= ENSP00000444817.1:n.*436G=
ENST00000543090.5:c.446G= ENSP00000445429.1:p.Arg149=
ENST00000543543.5:n.735G=
ENST00000544360.5:n.468G=
ENST00000544387.5:c.500G= ENSP00000438424.1:p.Arg167=
ENST00000545621.5:c.*395G= ENSP00000444849.1:n.*395G=
ENST00000546226.5:n.788G=
ENST00000546302.5:c.422G= ENSP00000445599.1:p.Arg141=
ENST00000546302.6:c.422G= ENSP00000445599.1:p.Arg141=
ENST00000640813.1:c.448-447G= ENSP00000491061.1:n.448-447G=
ENST00000648026.1:c.493-447G= ENSP00000498044.1:n.493-447G=
ENST00000648374.1:c.449G= ENSP00000497255.1:p.Arg150=
ENST00000648488.1:c.*85+158G= ENSP00000498079.1:n.*85+158G=
ENST00000649823.1:n.717G=
ENST00000649868.1:c.*207-447G= ENSP00000497548.1:n.*207-447G=
ENST00000650101.1:c.431G= ENSP00000496970.1:p.Arg144=
ENST00000650307.1:n.1326G=
ENST00000686218.1:c.335G= ENSP00000509288.1:p.Arg112=
ENST00000686690.1:n.1350G=
ENST00000691144.1:n.2241G=
ENST00000691249.1:n.1084G=
XM_005271531.1:c.449G= XP_005271588.1:p.Arg150=
XM_005271532.1:c.449G= XP_005271589.1:p.Arg150=
XM_005271533.2:c.446G= XP_005271590.1:p.Arg149=
XM_005271533.3:c.446G= XP_005271590.1:p.Arg149=
XM_011542796.1:c.335G= XP_011541098.1:p.Arg112=
XM_017017629.1:c.449G= XP_016873118.1:p.Arg150=
XM_024448460.1:c.446G= XP_024304228.1:p.Arg149=