Canonical Allele Identifier: CA1825940816
Gene: FAM83H HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143728515C= , CM000670.2:g.143728515C= GRCh38
NC_000008.10:g.144810685C= , CM000670.1:g.144810685C= GRCh37
NC_000008.9:g.144882673C= NCBI36
NG_016652.1:g.10230G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000388913.4:c.946G= MANE Select ENSP00000373565.3:p.Ala316=
ENST00000650760.1:c.1549G= ENSP00000499217.1:p.Ala517=
ENST00000388913.3:c.946G= ENSP00000373565.3:p.Ala316=
ENST00000395103.2:c.126G=
NM_198488.3:c.946G= NP_940890.3:p.Ala316=
XM_005250887.2:c.1003G= XP_005250944.1:p.Ala335=
XM_005250888.2:c.964G= XP_005250945.1:p.Ala322=
XM_005250889.2:c.946G= XP_005250946.1:p.Ala316=
XM_011516980.1:c.1267G= XP_011515282.1:p.Ala423=
XM_011516981.1:c.1114G= XP_011515283.1:p.Ala372=
XM_005250887.3:c.1003G= XP_005250944.1:p.Ala335=
XM_005250888.3:c.964G= XP_005250945.1:p.Ala322=
XM_005250889.3:c.946G= XP_005250946.1:p.Ala316=
XM_011516980.2:c.1549G= XP_011515282.2:p.Ala517=
XM_011516981.2:c.1114G= XP_011515283.1:p.Ala372=
XM_024447131.1:c.946G= XP_024302899.1:p.Ala316=
NM_198488.4:c.946G= NP_940890.3:p.Ala316=
NM_198488.5:c.946G= MANE Select NP_940890.4:p.Ala316=