Canonical Allele Identifier: CA372468326

Gene: FAM83H

Linked Data

• MyVariant Identifiers: chr8:g.144810465T>G (hg19) ; chr8:g.143728295T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728295T>G , CM000670.2:g.143728295T>G	GRCh38
NC_000008.10:g.144810465T>G , CM000670.1:g.144810465T>G	GRCh37
NC_000008.9:g.144882453T>G	NCBI36
NG_016652.1:g.10450A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.1166A>C MANE Select	ENSP00000373565.3:p.Glu389Ala
ENST00000650760.1:c.1769A>C	ENSP00000499217.1:p.Glu590Ala
ENST00000388913.3:c.1166A>C	ENSP00000373565.3:p.Glu389Ala
ENST00000395103.2:c.346A>C
NM_198488.3:c.1166A>C	NP_940890.3:p.Glu389Ala
XM_005250887.2:c.1223A>C	XP_005250944.1:p.Glu408Ala
XM_005250888.2:c.1184A>C	XP_005250945.1:p.Glu395Ala
XM_005250889.2:c.1166A>C	XP_005250946.1:p.Glu389Ala
XM_011516980.1:c.1487A>C	XP_011515282.1:p.Glu496Ala
XM_011516981.1:c.1334A>C	XP_011515283.1:p.Glu445Ala
XM_005250887.3:c.1223A>C	XP_005250944.1:p.Glu408Ala
XM_005250888.3:c.1184A>C	XP_005250945.1:p.Glu395Ala
XM_005250889.3:c.1166A>C	XP_005250946.1:p.Glu389Ala
XM_011516980.2:c.1769A>C	XP_011515282.2:p.Glu590Ala
XM_011516981.2:c.1334A>C	XP_011515283.1:p.Glu445Ala
XM_024447131.1:c.1166A>C	XP_024302899.1:p.Glu389Ala
NM_198488.4:c.1166A>C	NP_940890.3:p.Glu389Ala
NM_198488.5:c.1166A>C MANE Select	NP_940890.4:p.Glu389Ala