Canonical Allele Identifier: CA1825940764
Gene: FAM83H HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143728419G= , CM000670.2:g.143728419G= GRCh38
NC_000008.10:g.144810589G= , CM000670.1:g.144810589G= GRCh37
NC_000008.9:g.144882577G= NCBI36
NG_016652.1:g.10326C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000388913.4:c.1042C= MANE Select ENSP00000373565.3:p.Arg348=
ENST00000650760.1:c.1645C= ENSP00000499217.1:p.Arg549=
ENST00000388913.3:c.1042C= ENSP00000373565.3:p.Arg348=
ENST00000395103.2:c.222C=
NM_198488.3:c.1042C= NP_940890.3:p.Arg348=
XM_005250887.2:c.1099C= XP_005250944.1:p.Arg367=
XM_005250888.2:c.1060C= XP_005250945.1:p.Arg354=
XM_005250889.2:c.1042C= XP_005250946.1:p.Arg348=
XM_011516980.1:c.1363C= XP_011515282.1:p.Arg455=
XM_011516981.1:c.1210C= XP_011515283.1:p.Arg404=
XM_005250887.3:c.1099C= XP_005250944.1:p.Arg367=
XM_005250888.3:c.1060C= XP_005250945.1:p.Arg354=
XM_005250889.3:c.1042C= XP_005250946.1:p.Arg348=
XM_011516980.2:c.1645C= XP_011515282.2:p.Arg549=
XM_011516981.2:c.1210C= XP_011515283.1:p.Arg404=
XM_024447131.1:c.1042C= XP_024302899.1:p.Arg348=
NM_198488.4:c.1042C= NP_940890.3:p.Arg348=
NM_198488.5:c.1042C= MANE Select NP_940890.4:p.Arg348=