Canonical Allele Identifier: CA372468973

Gene: FAM83H

Linked Data

• MyVariant Identifiers: chr8:g.144810663G>A (hg19) ; chr8:g.143728493G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728493G>A , CM000670.2:g.143728493G>A	GRCh38
NC_000008.10:g.144810663G>A , CM000670.1:g.144810663G>A	GRCh37
NC_000008.9:g.144882651G>A	NCBI36
NG_016652.1:g.10252C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.968C>T MANE Select	ENSP00000373565.3:p.Pro323Leu
ENST00000650760.1:c.1571C>T	ENSP00000499217.1:p.Pro524Leu
ENST00000388913.3:c.968C>T	ENSP00000373565.3:p.Pro323Leu
ENST00000395103.2:c.148C>T
NM_198488.3:c.968C>T	NP_940890.3:p.Pro323Leu
XM_005250887.2:c.1025C>T	XP_005250944.1:p.Pro342Leu
XM_005250888.2:c.986C>T	XP_005250945.1:p.Pro329Leu
XM_005250889.2:c.968C>T	XP_005250946.1:p.Pro323Leu
XM_011516980.1:c.1289C>T	XP_011515282.1:p.Pro430Leu
XM_011516981.1:c.1136C>T	XP_011515283.1:p.Pro379Leu
XM_005250887.3:c.1025C>T	XP_005250944.1:p.Pro342Leu
XM_005250888.3:c.986C>T	XP_005250945.1:p.Pro329Leu
XM_005250889.3:c.968C>T	XP_005250946.1:p.Pro323Leu
XM_011516980.2:c.1571C>T	XP_011515282.2:p.Pro524Leu
XM_011516981.2:c.1136C>T	XP_011515283.1:p.Pro379Leu
XM_024447131.1:c.968C>T	XP_024302899.1:p.Pro323Leu
NM_198488.4:c.968C>T	NP_940890.3:p.Pro323Leu
NM_198488.5:c.968C>T MANE Select	NP_940890.4:p.Pro323Leu