Canonical Allele Identifier: CA372469218

Gene: FAM83H

Linked Data

• MyVariant Identifiers: chr8:g.144810741T>A (hg19) ; chr8:g.143728571T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728571T>A , CM000670.2:g.143728571T>A	GRCh38
NC_000008.10:g.144810741T>A , CM000670.1:g.144810741T>A	GRCh37
NC_000008.9:g.144882729T>A	NCBI36
NG_016652.1:g.10174A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.890A>T MANE Select	ENSP00000373565.3:p.Tyr297Phe
ENST00000650760.1:c.1493A>T	ENSP00000499217.1:p.Tyr498Phe
ENST00000388913.3:c.890A>T	ENSP00000373565.3:p.Tyr297Phe
ENST00000395103.2:c.70A>T
NM_198488.3:c.890A>T	NP_940890.3:p.Tyr297Phe
XM_005250887.2:c.947A>T	XP_005250944.1:p.Tyr316Phe
XM_005250888.2:c.908A>T	XP_005250945.1:p.Tyr303Phe
XM_005250889.2:c.890A>T	XP_005250946.1:p.Tyr297Phe
XM_011516980.1:c.1211A>T	XP_011515282.1:p.Tyr404Phe
XM_011516981.1:c.1058A>T	XP_011515283.1:p.Tyr353Phe
XM_005250887.3:c.947A>T	XP_005250944.1:p.Tyr316Phe
XM_005250888.3:c.908A>T	XP_005250945.1:p.Tyr303Phe
XM_005250889.3:c.890A>T	XP_005250946.1:p.Tyr297Phe
XM_011516980.2:c.1493A>T	XP_011515282.2:p.Tyr498Phe
XM_011516981.2:c.1058A>T	XP_011515283.1:p.Tyr353Phe
XM_024447131.1:c.890A>T	XP_024302899.1:p.Tyr297Phe
NM_198488.4:c.890A>T	NP_940890.3:p.Tyr297Phe
NM_198488.5:c.890A>T MANE Select	NP_940890.4:p.Tyr297Phe