Canonical Allele Identifier: CA372468408
Gene: FAM83H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143728316G>T , CM000670.2:g.143728316G>T GRCh38
NC_000008.10:g.144810486G>T , CM000670.1:g.144810486G>T GRCh37
NC_000008.9:g.144882474G>T NCBI36
NG_016652.1:g.10429C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000388913.4:c.1145C>A MANE Select ENSP00000373565.3:p.Ala382Asp
ENST00000650760.1:c.1748C>A ENSP00000499217.1:p.Ala583Asp
ENST00000388913.3:c.1145C>A ENSP00000373565.3:p.Ala382Asp
ENST00000395103.2:c.325C>A
NM_198488.3:c.1145C>A NP_940890.3:p.Ala382Asp
XM_005250887.2:c.1202C>A XP_005250944.1:p.Ala401Asp
XM_005250888.2:c.1163C>A XP_005250945.1:p.Ala388Asp
XM_005250889.2:c.1145C>A XP_005250946.1:p.Ala382Asp
XM_011516980.1:c.1466C>A XP_011515282.1:p.Ala489Asp
XM_011516981.1:c.1313C>A XP_011515283.1:p.Ala438Asp
XM_005250887.3:c.1202C>A XP_005250944.1:p.Ala401Asp
XM_005250888.3:c.1163C>A XP_005250945.1:p.Ala388Asp
XM_005250889.3:c.1145C>A XP_005250946.1:p.Ala382Asp
XM_011516980.2:c.1748C>A XP_011515282.2:p.Ala583Asp
XM_011516981.2:c.1313C>A XP_011515283.1:p.Ala438Asp
XM_024447131.1:c.1145C>A XP_024302899.1:p.Ala382Asp
NM_198488.4:c.1145C>A NP_940890.3:p.Ala382Asp
NM_198488.5:c.1145C>A MANE Select NP_940890.4:p.Ala382Asp