Canonical Allele Identifier: CA463519882

Gene: FAM83H

Linked Data

• MyVariant Identifiers: chr8:g.144810695A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728525A>T , CM000670.2:g.143728525A>T	GRCh38
NC_000008.10:g.144810695A>T , CM000670.1:g.144810695A>T	GRCh37
NC_000008.9:g.144882683A>T	NCBI36
NG_016652.1:g.10220T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.936T>A MANE Select	ENSP00000373565.3:p.Pro312=
ENST00000650760.1:c.1539T>A	ENSP00000499217.1:p.Pro513=
ENST00000388913.3:c.936T>A	ENSP00000373565.3:p.Pro312=
ENST00000395103.2:c.116T>A
NM_198488.3:c.936T>A	NP_940890.3:p.Pro312=
XM_005250887.2:c.993T>A	XP_005250944.1:p.Pro331=
XM_005250888.2:c.954T>A	XP_005250945.1:p.Pro318=
XM_005250889.2:c.936T>A	XP_005250946.1:p.Pro312=
XM_011516980.1:c.1257T>A	XP_011515282.1:p.Pro419=
XM_011516981.1:c.1104T>A	XP_011515283.1:p.Pro368=
XM_005250887.3:c.993T>A	XP_005250944.1:p.Pro331=
XM_005250888.3:c.954T>A	XP_005250945.1:p.Pro318=
XM_005250889.3:c.936T>A	XP_005250946.1:p.Pro312=
XM_011516980.2:c.1539T>A	XP_011515282.2:p.Pro513=
XM_011516981.2:c.1104T>A	XP_011515283.1:p.Pro368=
XM_024447131.1:c.936T>A	XP_024302899.1:p.Pro312=
NM_198488.4:c.936T>A	NP_940890.3:p.Pro312=
NM_198488.5:c.936T>A MANE Select	NP_940890.4:p.Pro312=