Canonical Allele Identifier: CA372469416
Gene: FAM83H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143728639G>T , CM000670.2:g.143728639G>T GRCh38
NC_000008.10:g.144810809G>T , CM000670.1:g.144810809G>T GRCh37
NC_000008.9:g.144882797G>T NCBI36
NG_016652.1:g.10106C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388913.4:c.822C>A MANE Select ENSP00000373565.3:p.Phe274Leu
ENST00000650760.1:c.1425C>A ENSP00000499217.1:p.Phe475Leu
ENST00000388913.3:c.822C>A ENSP00000373565.3:p.Phe274Leu
ENST00000395103.2:c.2C>A
NM_198488.3:c.822C>A NP_940890.3:p.Phe274Leu
XM_005250887.2:c.879C>A XP_005250944.1:p.Phe293Leu
XM_005250888.2:c.840C>A XP_005250945.1:p.Phe280Leu
XM_005250889.2:c.822C>A XP_005250946.1:p.Phe274Leu
XM_011516980.1:c.1143C>A XP_011515282.1:p.Phe381Leu
XM_011516981.1:c.990C>A XP_011515283.1:p.Phe330Leu
XM_005250887.3:c.879C>A XP_005250944.1:p.Phe293Leu
XM_005250888.3:c.840C>A XP_005250945.1:p.Phe280Leu
XM_005250889.3:c.822C>A XP_005250946.1:p.Phe274Leu
XM_011516980.2:c.1425C>A XP_011515282.2:p.Phe475Leu
XM_011516981.2:c.990C>A XP_011515283.1:p.Phe330Leu
XM_024447131.1:c.822C>A XP_024302899.1:p.Phe274Leu
NM_198488.4:c.822C>A NP_940890.3:p.Phe274Leu
NM_198488.5:c.822C>A MANE Select NP_940890.4:p.Phe274Leu