Canonical Allele Identifier: CA1825940894

Gene: FAM83H

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728647C= , CM000670.2:g.143728647C=	GRCh38
NC_000008.10:g.144810817C= , CM000670.1:g.144810817C=	GRCh37
NC_000008.9:g.144882805C=	NCBI36
NG_016652.1:g.10098G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.814G= MANE Select	ENSP00000373565.3:p.Glu272=
ENST00000650760.1:c.1417G=	ENSP00000499217.1:p.Glu473=
ENST00000388913.3:c.814G=	ENSP00000373565.3:p.Glu272=
NM_198488.3:c.814G=	NP_940890.3:p.Glu272=
XM_005250887.2:c.871G=	XP_005250944.1:p.Glu291=
XM_005250888.2:c.832G=	XP_005250945.1:p.Glu278=
XM_005250889.2:c.814G=	XP_005250946.1:p.Glu272=
XM_011516980.1:c.1135G=	XP_011515282.1:p.Glu379=
XM_011516981.1:c.982G=	XP_011515283.1:p.Glu328=
XM_005250887.3:c.871G=	XP_005250944.1:p.Glu291=
XM_005250888.3:c.832G=	XP_005250945.1:p.Glu278=
XM_005250889.3:c.814G=	XP_005250946.1:p.Glu272=
XM_011516980.2:c.1417G=	XP_011515282.2:p.Glu473=
XM_011516981.2:c.982G=	XP_011515283.1:p.Glu328=
XM_024447131.1:c.814G=	XP_024302899.1:p.Glu272=
NM_198488.4:c.814G=	NP_940890.3:p.Glu272=
NM_198488.5:c.814G= MANE Select	NP_940890.4:p.Glu272=