Canonical Allele Identifier: CA4917565
Gene: FAM83H HGNC NCBI

Linked Data

dbSNP Id: rs782125363

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143728583C>A , CM000670.2:g.143728583C>A GRCh38
NC_000008.10:g.144810753C>A , CM000670.1:g.144810753C>A GRCh37
NC_000008.9:g.144882741C>A NCBI36
NG_016652.1:g.10162G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000388913.4:c.878G>T MANE Select ENSP00000373565.3:p.Arg293Leu
ENST00000650760.1:c.1481G>T ENSP00000499217.1:p.Arg494Leu
ENST00000388913.3:c.878G>T ENSP00000373565.3:p.Arg293Leu
ENST00000395103.2:c.58G>T
NM_198488.3:c.878G>T NP_940890.3:p.Arg293Leu
XM_005250887.2:c.935G>T XP_005250944.1:p.Arg312Leu
XM_005250888.2:c.896G>T XP_005250945.1:p.Arg299Leu
XM_005250889.2:c.878G>T XP_005250946.1:p.Arg293Leu
XM_011516980.1:c.1199G>T XP_011515282.1:p.Arg400Leu
XM_011516981.1:c.1046G>T XP_011515283.1:p.Arg349Leu
XM_005250887.3:c.935G>T XP_005250944.1:p.Arg312Leu
XM_005250888.3:c.896G>T XP_005250945.1:p.Arg299Leu
XM_005250889.3:c.878G>T XP_005250946.1:p.Arg293Leu
XM_011516980.2:c.1481G>T XP_011515282.2:p.Arg494Leu
XM_011516981.2:c.1046G>T XP_011515283.1:p.Arg349Leu
XM_024447131.1:c.878G>T XP_024302899.1:p.Arg293Leu
NM_198488.4:c.878G>T NP_940890.3:p.Arg293Leu
NM_198488.5:c.878G>T MANE Select NP_940890.4:p.Arg293Leu