Canonical Allele Identifier: CA372468588
Gene: FAM83H HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143728358T>G , CM000670.2:g.143728358T>G GRCh38
NC_000008.10:g.144810528T>G , CM000670.1:g.144810528T>G GRCh37
NC_000008.9:g.144882516T>G NCBI36
NG_016652.1:g.10387A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000388913.4:c.1103A>C MANE Select ENSP00000373565.3:p.Glu368Ala
ENST00000650760.1:c.1706A>C ENSP00000499217.1:p.Glu569Ala
ENST00000388913.3:c.1103A>C ENSP00000373565.3:p.Glu368Ala
ENST00000395103.2:c.283A>C
NM_198488.3:c.1103A>C NP_940890.3:p.Glu368Ala
XM_005250887.2:c.1160A>C XP_005250944.1:p.Glu387Ala
XM_005250888.2:c.1121A>C XP_005250945.1:p.Glu374Ala
XM_005250889.2:c.1103A>C XP_005250946.1:p.Glu368Ala
XM_011516980.1:c.1424A>C XP_011515282.1:p.Glu475Ala
XM_011516981.1:c.1271A>C XP_011515283.1:p.Glu424Ala
XM_005250887.3:c.1160A>C XP_005250944.1:p.Glu387Ala
XM_005250888.3:c.1121A>C XP_005250945.1:p.Glu374Ala
XM_005250889.3:c.1103A>C XP_005250946.1:p.Glu368Ala
XM_011516980.2:c.1706A>C XP_011515282.2:p.Glu569Ala
XM_011516981.2:c.1271A>C XP_011515283.1:p.Glu424Ala
XM_024447131.1:c.1103A>C XP_024302899.1:p.Glu368Ala
NM_198488.4:c.1103A>C NP_940890.3:p.Glu368Ala
NM_198488.5:c.1103A>C MANE Select NP_940890.4:p.Glu368Ala