Canonical Allele Identifier: CA372468937

Gene: FAM83H

Linked Data

• dbSNP Id: rs1554623429
• gnomAD v2: 8-144810645-A-G
• gnomAD v4: 8-143728475-A-G
• MyVariant Identifiers: chr8:g.144810645A>G (hg19) ; chr8:g.143728475A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143728475A>G , CM000670.2:g.143728475A>G	GRCh38
NC_000008.10:g.144810645A>G , CM000670.1:g.144810645A>G	GRCh37
NC_000008.9:g.144882633A>G	NCBI36
NG_016652.1:g.10270T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388913.4:c.986T>C MANE Select	ENSP00000373565.3:p.Leu329Pro
ENST00000650760.1:c.1589T>C	ENSP00000499217.1:p.Leu530Pro
ENST00000388913.3:c.986T>C	ENSP00000373565.3:p.Leu329Pro
ENST00000395103.2:c.166T>C
NM_198488.3:c.986T>C	NP_940890.3:p.Leu329Pro
XM_005250887.2:c.1043T>C	XP_005250944.1:p.Leu348Pro
XM_005250888.2:c.1004T>C	XP_005250945.1:p.Leu335Pro
XM_005250889.2:c.986T>C	XP_005250946.1:p.Leu329Pro
XM_011516980.1:c.1307T>C	XP_011515282.1:p.Leu436Pro
XM_011516981.1:c.1154T>C	XP_011515283.1:p.Leu385Pro
XM_005250887.3:c.1043T>C	XP_005250944.1:p.Leu348Pro
XM_005250888.3:c.1004T>C	XP_005250945.1:p.Leu335Pro
XM_005250889.3:c.986T>C	XP_005250946.1:p.Leu329Pro
XM_011516980.2:c.1589T>C	XP_011515282.2:p.Leu530Pro
XM_011516981.2:c.1154T>C	XP_011515283.1:p.Leu385Pro
XM_024447131.1:c.986T>C	XP_024302899.1:p.Leu329Pro
NM_198488.4:c.986T>C	NP_940890.3:p.Leu329Pro
NM_198488.5:c.986T>C MANE Select	NP_940890.4:p.Leu329Pro