Canonical Allele Identifier: CA1825940808
Gene: FAM83H HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143728506G= , CM000670.2:g.143728506G= GRCh38
NC_000008.10:g.144810676G= , CM000670.1:g.144810676G= GRCh37
NC_000008.9:g.144882664G= NCBI36
NG_016652.1:g.10239C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000388913.4:c.955C= MANE Select ENSP00000373565.3:p.Pro319=
ENST00000650760.1:c.1558C= ENSP00000499217.1:p.Pro520=
ENST00000388913.3:c.955C= ENSP00000373565.3:p.Pro319=
ENST00000395103.2:c.135C=
NM_198488.3:c.955C= NP_940890.3:p.Pro319=
XM_005250887.2:c.1012C= XP_005250944.1:p.Pro338=
XM_005250888.2:c.973C= XP_005250945.1:p.Pro325=
XM_005250889.2:c.955C= XP_005250946.1:p.Pro319=
XM_011516980.1:c.1276C= XP_011515282.1:p.Pro426=
XM_011516981.1:c.1123C= XP_011515283.1:p.Pro375=
XM_005250887.3:c.1012C= XP_005250944.1:p.Pro338=
XM_005250888.3:c.973C= XP_005250945.1:p.Pro325=
XM_005250889.3:c.955C= XP_005250946.1:p.Pro319=
XM_011516980.2:c.1558C= XP_011515282.2:p.Pro520=
XM_011516981.2:c.1123C= XP_011515283.1:p.Pro375=
XM_024447131.1:c.955C= XP_024302899.1:p.Pro319=
NM_198488.4:c.955C= NP_940890.3:p.Pro319=
NM_198488.5:c.955C= MANE Select NP_940890.4:p.Pro319=