Canonical Allele Identifier: CA1825940791

Gene: FAM83H

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728474C= , CM000670.2:g.143728474C=	GRCh38
NC_000008.10:g.144810644C= , CM000670.1:g.144810644C=	GRCh37
NC_000008.9:g.144882632C=	NCBI36
NG_016652.1:g.10271G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.987G= MANE Select	ENSP00000373565.3:p.Leu329=
ENST00000650760.1:c.1590G=	ENSP00000499217.1:p.Leu530=
ENST00000388913.3:c.987G=	ENSP00000373565.3:p.Leu329=
ENST00000395103.2:c.167G=
NM_198488.3:c.987G=	NP_940890.3:p.Leu329=
XM_005250887.2:c.1044G=	XP_005250944.1:p.Leu348=
XM_005250888.2:c.1005G=	XP_005250945.1:p.Leu335=
XM_005250889.2:c.987G=	XP_005250946.1:p.Leu329=
XM_011516980.1:c.1308G=	XP_011515282.1:p.Leu436=
XM_011516981.1:c.1155G=	XP_011515283.1:p.Leu385=
XM_005250887.3:c.1044G=	XP_005250944.1:p.Leu348=
XM_005250888.3:c.1005G=	XP_005250945.1:p.Leu335=
XM_005250889.3:c.987G=	XP_005250946.1:p.Leu329=
XM_011516980.2:c.1590G=	XP_011515282.2:p.Leu530=
XM_011516981.2:c.1155G=	XP_011515283.1:p.Leu385=
XM_024447131.1:c.987G=	XP_024302899.1:p.Leu329=
NM_198488.4:c.987G=	NP_940890.3:p.Leu329=
NM_198488.5:c.987G= MANE Select	NP_940890.4:p.Leu329=