Canonical Allele Identifier: CA3183114611
Community Standard Title: NM_000190.4(HMBS):c.958G= (p.Ala320=)
Gene: HMBS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119093155G= , CM000673.2:g.119093155G= GRCh38
NC_000011.9:g.118963865G= , CM000673.1:g.118963865G= GRCh37
NC_000011.8:g.118469075G= NCBI36
NG_008093.1:g.13279G=

Transcript Alleles

HGVS Amino-acid Change
NM_000190.4:c.958G= MANE Select NP_000181.2:p.Ala320=
ENST00000652429.1:c.958G= MANE Select ENSP00000498786.1:p.Ala320=
NM_000190.3:c.958G= NP_000181.2:p.Ala320=
NM_001024382.1:c.907G= NP_001019553.1:p.Ala303=
NM_001024382.2:c.907G= NP_001019553.1:p.Ala303=
NM_001258208.1:c.838G= NP_001245137.1:p.Ala280=
NM_001258208.2:c.838G= NP_001245137.1:p.Ala280=
NM_001258209.1:c.787G= NP_001245138.1:p.Ala263=
NM_001258209.2:c.787G= NP_001245138.1:p.Ala263=
ENST00000278715.7:c.958G= ENSP00000278715.3:p.Ala320=
ENST00000392841.1:c.907G= ENSP00000376584.1:p.Ala303=
ENST00000442944.6:c.907G= ENSP00000392041.2:p.Ala303=
ENST00000442944.7:c.940G= ENSP00000392041.3:p.Ala314=
ENST00000537841.5:c.907G= ENSP00000444730.1:p.Ala303=
ENST00000539045.1:n.457G=
ENST00000542044.5:n.1403G=
ENST00000542729.5:c.787G= ENSP00000443058.1:p.Ala263=
ENST00000543090.5:c.865G= ENSP00000445429.1:p.Ala289=
ENST00000543543.5:n.1433G=
ENST00000544182.1:n.1407G=
ENST00000544387.5:c.838G= ENSP00000438424.1:p.Ala280=
ENST00000546226.5:n.1720G=
ENST00000640813.1:c.*195G= ENSP00000491061.1:n.*195G=
ENST00000648026.1:c.852G= ENSP00000498044.1:n.852G=
ENST00000648374.1:c.907G= ENSP00000497255.1:p.Ala303=
ENST00000650101.1:c.889G= ENSP00000496970.1:p.Ala297=
ENST00000650307.1:n.1784G=
ENST00000686218.1:c.793G= ENSP00000509288.1:p.Ala265=
ENST00000691144.1:n.3173G=
ENST00000691249.1:n.1782G=
XM_005271531.1:c.907G= XP_005271588.1:p.Ala303=
XM_005271532.1:c.907G= XP_005271589.1:p.Ala303=
XM_005271533.2:c.904G= XP_005271590.1:p.Ala302=
XM_005271533.3:c.904G= XP_005271590.1:p.Ala302=
XM_011542796.1:c.793G= XP_011541098.1:p.Ala265=
XM_017017629.1:c.907G= XP_016873118.1:p.Ala303=
XM_024448460.1:c.784G= XP_024304228.1:p.Ala262=