Canonical Allele Identifier: CA2003792724
Community Standard Title: NM_000190.4(HMBS):c.849G= (p.Trp283=)
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092958G= , CM000673.2:g.119092958G= GRCh38
NC_000011.9:g.118963668G= , CM000673.1:g.118963668G= GRCh37
NC_000011.8:g.118468878G= NCBI36
NG_008093.1:g.13082G=

Transcript Alleles

HGVS Amino-acid Change
NM_000190.4:c.849G= MANE Select NP_000181.2:p.Trp283=
ENST00000652429.1:c.849G= MANE Select ENSP00000498786.1:p.Trp283=
NM_000190.3:c.849G= NP_000181.2:p.Trp283=
NM_001024382.1:c.798G= NP_001019553.1:p.Trp266=
NM_001024382.2:c.798G= NP_001019553.1:p.Trp266=
NM_001258208.1:c.729G= NP_001245137.1:p.Trp243=
NM_001258208.2:c.729G= NP_001245137.1:p.Trp243=
NM_001258209.1:c.678G= NP_001245138.1:p.Trp226=
NM_001258209.2:c.678G= NP_001245138.1:p.Trp226=
ENST00000278715.7:c.849G= ENSP00000278715.3:p.Trp283=
ENST00000392841.1:c.798G= ENSP00000376584.1:p.Trp266=
ENST00000442944.6:c.798G= ENSP00000392041.2:p.Trp266=
ENST00000442944.7:c.831G= ENSP00000392041.3:p.Trp277=
ENST00000537841.5:c.798G= ENSP00000444730.1:p.Trp266=
ENST00000539045.1:n.348G=
ENST00000542044.5:n.1294G=
ENST00000542729.5:c.678G= ENSP00000443058.1:p.Trp226=
ENST00000543090.5:c.756G= ENSP00000445429.1:p.Trp252=
ENST00000543543.5:n.1324G=
ENST00000544182.1:n.1298G=
ENST00000544387.5:c.729G= ENSP00000438424.1:p.Trp243=
ENST00000546226.5:n.1611G=
ENST00000640813.1:c.*86G= ENSP00000491061.1:n.*86G=
ENST00000648026.1:c.743G= ENSP00000498044.1:n.743G=
ENST00000648374.1:c.798G= ENSP00000497255.1:p.Trp266=
ENST00000650101.1:c.780G= ENSP00000496970.1:p.Trp260=
ENST00000650307.1:n.1675G=
ENST00000686218.1:c.684G= ENSP00000509288.1:p.Trp228=
ENST00000691144.1:n.3064G=
ENST00000691249.1:n.1673G=
XM_005271531.1:c.798G= XP_005271588.1:p.Trp266=
XM_005271532.1:c.798G= XP_005271589.1:p.Trp266=
XM_005271533.2:c.795G= XP_005271590.1:p.Trp265=
XM_005271533.3:c.795G= XP_005271590.1:p.Trp265=
XM_011542796.1:c.684G= XP_011541098.1:p.Trp228=
XM_017017629.1:c.798G= XP_016873118.1:p.Trp266=
XM_024448460.1:c.675G= XP_024304228.1:p.Trp225=