Canonical Allele Identifier: CA1825940876
Gene: FAM83H HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143728610A= , CM000670.2:g.143728610A= GRCh38
NC_000008.10:g.144810780A= , CM000670.1:g.144810780A= GRCh37
NC_000008.9:g.144882768A= NCBI36
NG_016652.1:g.10135T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000388913.4:c.851T= MANE Select ENSP00000373565.3:p.Leu284=
ENST00000650760.1:c.1454T= ENSP00000499217.1:p.Leu485=
ENST00000388913.3:c.851T= ENSP00000373565.3:p.Leu284=
ENST00000395103.2:c.31T=
NM_198488.3:c.851T= NP_940890.3:p.Leu284=
XM_005250887.2:c.908T= XP_005250944.1:p.Leu303=
XM_005250888.2:c.869T= XP_005250945.1:p.Leu290=
XM_005250889.2:c.851T= XP_005250946.1:p.Leu284=
XM_011516980.1:c.1172T= XP_011515282.1:p.Leu391=
XM_011516981.1:c.1019T= XP_011515283.1:p.Leu340=
XM_005250887.3:c.908T= XP_005250944.1:p.Leu303=
XM_005250888.3:c.869T= XP_005250945.1:p.Leu290=
XM_005250889.3:c.851T= XP_005250946.1:p.Leu284=
XM_011516980.2:c.1454T= XP_011515282.2:p.Leu485=
XM_011516981.2:c.1019T= XP_011515283.1:p.Leu340=
XM_024447131.1:c.851T= XP_024302899.1:p.Leu284=
NM_198488.4:c.851T= NP_940890.3:p.Leu284=
NM_198488.5:c.851T= MANE Select NP_940890.4:p.Leu284=