Canonical Allele Identifier: CA6314205
Community Standard Title: NM_000190.4(HMBS):c.798C>T (p.Ala266=)
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119092784C>T , CM000673.2:g.119092784C>T GRCh38
NC_000011.9:g.118963494C>T , CM000673.1:g.118963494C>T GRCh37
NC_000011.8:g.118468704C>T NCBI36
NG_008093.1:g.12908C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000190.4:c.798C>T MANE Select NP_000181.2:p.Ala266=
ENST00000652429.1:c.798C>T MANE Select ENSP00000498786.1:p.Ala266=
NM_000190.3:c.798C>T NP_000181.2:p.Ala266=
NM_001024382.1:c.747C>T NP_001019553.1:p.Ala249=
NM_001024382.2:c.747C>T NP_001019553.1:p.Ala249=
NM_001258208.1:c.678C>T NP_001245137.1:p.Ala226=
NM_001258208.2:c.678C>T NP_001245137.1:p.Ala226=
NM_001258209.1:c.627C>T NP_001245138.1:p.Ala209=
NM_001258209.2:c.627C>T NP_001245138.1:p.Ala209=
ENST00000278715.7:c.798C>T ENSP00000278715.3:p.Ala266=
ENST00000392841.1:c.747C>T ENSP00000376584.1:p.Ala249=
ENST00000442944.6:c.747C>T ENSP00000392041.2:p.Ala249=
ENST00000442944.7:c.780C>T ENSP00000392041.3:p.Ala260=
ENST00000537841.5:c.747C>T ENSP00000444730.1:p.Ala249=
ENST00000539045.1:n.174C>T
ENST00000542044.5:n.1243C>T
ENST00000542729.5:c.627C>T ENSP00000443058.1:p.Ala209=
ENST00000543090.5:c.705C>T ENSP00000445429.1:p.Ala235=
ENST00000543543.5:n.1273C>T
ENST00000544182.1:n.1247C>T
ENST00000544387.5:c.678C>T ENSP00000438424.1:p.Ala226=
ENST00000546226.5:n.1560C>T
ENST00000640813.1:c.*35C>T ENSP00000491061.1:n.*35C>T
ENST00000648026.1:c.692C>T ENSP00000498044.1:n.692C>T
ENST00000648374.1:c.747C>T ENSP00000497255.1:p.Ala249=
ENST00000649823.1:n.1255C>T
ENST00000650101.1:c.729C>T ENSP00000496970.1:p.Ala243=
ENST00000650307.1:n.1624C>T
ENST00000686218.1:c.633C>T ENSP00000509288.1:p.Ala211=
ENST00000691144.1:n.3013C>T
ENST00000691249.1:n.1622C>T
XM_005271531.1:c.747C>T XP_005271588.1:p.Ala249=
XM_005271532.1:c.747C>T XP_005271589.1:p.Ala249=
XM_005271533.2:c.744C>T XP_005271590.1:p.Ala248=
XM_005271533.3:c.744C>T XP_005271590.1:p.Ala248=
XM_011542796.1:c.633C>T XP_011541098.1:p.Ala211=
XM_017017629.1:c.747C>T XP_016873118.1:p.Ala249=
XM_024448460.1:c.624C>T XP_024304228.1:p.Ala208=