Canonical Allele Identifier: CA372469326

Gene: FAM83H

Linked Data

• MyVariant Identifiers: chr8:g.144810772A>C (hg19) ; chr8:g.143728602A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728602A>C , CM000670.2:g.143728602A>C	GRCh38
NC_000008.10:g.144810772A>C , CM000670.1:g.144810772A>C	GRCh37
NC_000008.9:g.144882760A>C	NCBI36
NG_016652.1:g.10143T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.859T>G MANE Select	ENSP00000373565.3:p.Ser287Ala
ENST00000650760.1:c.1462T>G	ENSP00000499217.1:p.Ser488Ala
ENST00000388913.3:c.859T>G	ENSP00000373565.3:p.Ser287Ala
ENST00000395103.2:c.39T>G
NM_198488.3:c.859T>G	NP_940890.3:p.Ser287Ala
XM_005250887.2:c.916T>G	XP_005250944.1:p.Ser306Ala
XM_005250888.2:c.877T>G	XP_005250945.1:p.Ser293Ala
XM_005250889.2:c.859T>G	XP_005250946.1:p.Ser287Ala
XM_011516980.1:c.1180T>G	XP_011515282.1:p.Ser394Ala
XM_011516981.1:c.1027T>G	XP_011515283.1:p.Ser343Ala
XM_005250887.3:c.916T>G	XP_005250944.1:p.Ser306Ala
XM_005250888.3:c.877T>G	XP_005250945.1:p.Ser293Ala
XM_005250889.3:c.859T>G	XP_005250946.1:p.Ser287Ala
XM_011516980.2:c.1462T>G	XP_011515282.2:p.Ser488Ala
XM_011516981.2:c.1027T>G	XP_011515283.1:p.Ser343Ala
XM_024447131.1:c.859T>G	XP_024302899.1:p.Ser287Ala
NM_198488.4:c.859T>G	NP_940890.3:p.Ser287Ala
NM_198488.5:c.859T>G MANE Select	NP_940890.4:p.Ser287Ala