Canonical Allele Identifier: CA1825940782
Gene: FAM83H HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143728454T= , CM000670.2:g.143728454T= GRCh38
NC_000008.10:g.144810624T= , CM000670.1:g.144810624T= GRCh37
NC_000008.9:g.144882612T= NCBI36
NG_016652.1:g.10291A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000388913.4:c.1007A= MANE Select ENSP00000373565.3:p.Glu336=
ENST00000650760.1:c.1610A= ENSP00000499217.1:p.Glu537=
ENST00000388913.3:c.1007A= ENSP00000373565.3:p.Glu336=
ENST00000395103.2:c.187A=
NM_198488.3:c.1007A= NP_940890.3:p.Glu336=
XM_005250887.2:c.1064A= XP_005250944.1:p.Glu355=
XM_005250888.2:c.1025A= XP_005250945.1:p.Glu342=
XM_005250889.2:c.1007A= XP_005250946.1:p.Glu336=
XM_011516980.1:c.1328A= XP_011515282.1:p.Glu443=
XM_011516981.1:c.1175A= XP_011515283.1:p.Glu392=
XM_005250887.3:c.1064A= XP_005250944.1:p.Glu355=
XM_005250888.3:c.1025A= XP_005250945.1:p.Glu342=
XM_005250889.3:c.1007A= XP_005250946.1:p.Glu336=
XM_011516980.2:c.1610A= XP_011515282.2:p.Glu537=
XM_011516981.2:c.1175A= XP_011515283.1:p.Glu392=
XM_024447131.1:c.1007A= XP_024302899.1:p.Glu336=
NM_198488.4:c.1007A= NP_940890.3:p.Glu336=
NM_198488.5:c.1007A= MANE Select NP_940890.4:p.Glu336=