Canonical Allele Identifier: CA372468988

Gene: FAM83H

Linked Data

• MyVariant Identifiers: chr8:g.144810670A>C (hg19) ; chr8:g.143728500A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728500A>C , CM000670.2:g.143728500A>C	GRCh38
NC_000008.10:g.144810670A>C , CM000670.1:g.144810670A>C	GRCh37
NC_000008.9:g.144882658A>C	NCBI36
NG_016652.1:g.10245T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.961T>G MANE Select	ENSP00000373565.3:p.Ser321Ala
ENST00000650760.1:c.1564T>G	ENSP00000499217.1:p.Ser522Ala
ENST00000388913.3:c.961T>G	ENSP00000373565.3:p.Ser321Ala
ENST00000395103.2:c.141T>G
NM_198488.3:c.961T>G	NP_940890.3:p.Ser321Ala
XM_005250887.2:c.1018T>G	XP_005250944.1:p.Ser340Ala
XM_005250888.2:c.979T>G	XP_005250945.1:p.Ser327Ala
XM_005250889.2:c.961T>G	XP_005250946.1:p.Ser321Ala
XM_011516980.1:c.1282T>G	XP_011515282.1:p.Ser428Ala
XM_011516981.1:c.1129T>G	XP_011515283.1:p.Ser377Ala
XM_005250887.3:c.1018T>G	XP_005250944.1:p.Ser340Ala
XM_005250888.3:c.979T>G	XP_005250945.1:p.Ser327Ala
XM_005250889.3:c.961T>G	XP_005250946.1:p.Ser321Ala
XM_011516980.2:c.1564T>G	XP_011515282.2:p.Ser522Ala
XM_011516981.2:c.1129T>G	XP_011515283.1:p.Ser377Ala
XM_024447131.1:c.961T>G	XP_024302899.1:p.Ser321Ala
NM_198488.4:c.961T>G	NP_940890.3:p.Ser321Ala
NM_198488.5:c.961T>G MANE Select	NP_940890.4:p.Ser321Ala