Canonical Allele Identifier: CA4917402

Gene: FAM83H

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143727951C>T , CM000670.2:g.143727951C>T	GRCh38
NC_000008.10:g.144810121C>T , CM000670.1:g.144810121C>T	GRCh37
NC_000008.9:g.144882109C>T	NCBI36
NG_016652.1:g.10794G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_198488.5:c.1510G>A MANE Select	NP_940890.4:p.Gly504Arg
ENST00000388913.4:c.1510G>A MANE Select	ENSP00000373565.3:p.Gly504Arg
NM_198488.3:c.1510G>A	NP_940890.3:p.Gly504Arg
NM_198488.4:c.1510G>A	NP_940890.3:p.Gly504Arg
ENST00000388913.3:c.1510G>A	ENSP00000373565.3:p.Gly504Arg
ENST00000395103.2:c.690G>A
ENST00000650760.1:c.2113G>A	ENSP00000499217.1:p.Gly705Arg
XM_005250887.2:c.1567G>A	XP_005250944.1:p.Gly523Arg
XM_005250887.3:c.1567G>A	XP_005250944.1:p.Gly523Arg
XM_005250888.2:c.1528G>A	XP_005250945.1:p.Gly510Arg
XM_005250888.3:c.1528G>A	XP_005250945.1:p.Gly510Arg
XM_005250889.2:c.1510G>A	XP_005250946.1:p.Gly504Arg
XM_005250889.3:c.1510G>A	XP_005250946.1:p.Gly504Arg
XM_011516980.1:c.1831G>A	XP_011515282.1:p.Gly611Arg
XM_011516980.2:c.2113G>A	XP_011515282.2:p.Gly705Arg
XM_011516981.1:c.1678G>A	XP_011515283.1:p.Gly560Arg
XM_011516981.2:c.1678G>A	XP_011515283.1:p.Gly560Arg
XM_024447131.1:c.1510G>A	XP_024302899.1:p.Gly504Arg