Canonical Allele Identifier: CA372469036

Gene: FAM83H

Linked Data

• MyVariant Identifiers: chr8:g.144810694C>T (hg19) ; chr8:g.143728524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728524C>T , CM000670.2:g.143728524C>T	GRCh38
NC_000008.10:g.144810694C>T , CM000670.1:g.144810694C>T	GRCh37
NC_000008.9:g.144882682C>T	NCBI36
NG_016652.1:g.10221G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.937G>A MANE Select	ENSP00000373565.3:p.Gly313Arg
ENST00000650760.1:c.1540G>A	ENSP00000499217.1:p.Gly514Arg
ENST00000388913.3:c.937G>A	ENSP00000373565.3:p.Gly313Arg
ENST00000395103.2:c.117G>A
NM_198488.3:c.937G>A	NP_940890.3:p.Gly313Arg
XM_005250887.2:c.994G>A	XP_005250944.1:p.Gly332Arg
XM_005250888.2:c.955G>A	XP_005250945.1:p.Gly319Arg
XM_005250889.2:c.937G>A	XP_005250946.1:p.Gly313Arg
XM_011516980.1:c.1258G>A	XP_011515282.1:p.Gly420Arg
XM_011516981.1:c.1105G>A	XP_011515283.1:p.Gly369Arg
XM_005250887.3:c.994G>A	XP_005250944.1:p.Gly332Arg
XM_005250888.3:c.955G>A	XP_005250945.1:p.Gly319Arg
XM_005250889.3:c.937G>A	XP_005250946.1:p.Gly313Arg
XM_011516980.2:c.1540G>A	XP_011515282.2:p.Gly514Arg
XM_011516981.2:c.1105G>A	XP_011515283.1:p.Gly369Arg
XM_024447131.1:c.937G>A	XP_024302899.1:p.Gly313Arg
NM_198488.4:c.937G>A	NP_940890.3:p.Gly313Arg
NM_198488.5:c.937G>A MANE Select	NP_940890.4:p.Gly313Arg