Canonical Allele Identifier: CA344770

Gene: FAM111A

Linked Data

• ClinVar Variation Id: 56810
• ClinVar RCV Id: RCV000050209 ; RCV000419087 ; RCV000988563 ; RCV001249420 ; RCV001267015
• dbSNP Id: rs587777011
• MyVariant Identifiers: chr11:g.58920847G>A (hg19) ; chr11:g.59153374G>A (hg38)
• PubMed: PMID:23684011

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.59153374G>A , CM000673.2:g.59153374G>A	GRCh38
NC_000011.9:g.58920847G>A , CM000673.1:g.58920847G>A	GRCh37
NC_000011.8:g.58677423G>A	NCBI36
NG_042835.1:g.15629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420244.6:c.1706G>A	ENSP00000406683.1:p.Arg569His
ENST00000527629.6:c.1706G>A	ENSP00000436128.2:p.Arg569His
ENST00000529985.3:c.1706G>A	ENSP00000502754.2:p.Arg569His
ENST00000531408.6:c.1706G>A	ENSP00000432821.2:p.Arg569His
ENST00000675806.2:c.1706G>A	ENSP00000501617.2:p.Arg569His
ENST00000682018.1:c.1706G>A	ENSP00000507215.1:p.Arg569His
ENST00000684135.1:c.1586G>A	ENSP00000508374.1:p.Arg529His
ENST00000674617.1:c.1706G>A	ENSP00000501786.1:p.Arg569His
ENST00000675163.1:c.1706G>A MANE Select	ENSP00000501952.1:p.Arg569His
ENST00000676340.1:c.1706G>A	ENSP00000501909.1:p.Arg569His
ENST00000676459.1:c.1706G>A	ENSP00000501771.1:p.Arg569His
ENST00000361723.7:c.1706G>A	ENSP00000355264.3:p.Arg569His
ENST00000420244.5:c.1706G>A	ENSP00000406683.1:p.Arg569His
ENST00000528737.5:c.1706G>A	ENSP00000434435.1:p.Arg569His
ENST00000531147.1:c.1706G>A	ENSP00000431631.1:p.Arg569His
ENST00000533703.1:c.1706G>A	ENSP00000433154.1:p.Arg569His
NM_001142519.1:c.1706G>A	NP_001135991.1:p.Arg569His
NM_001142519.2:c.1706G>A	NP_001135991.1:p.Arg569His
NM_001142520.1:c.1706G>A	NP_001135992.1:p.Arg569His
NM_001142520.2:c.1706G>A	NP_001135992.1:p.Arg569His
NM_001142521.1:c.1706G>A	NP_001135993.1:p.Arg569His
NM_001142521.2:c.1706G>A	NP_001135993.1:p.Arg569His
NM_001312909.1:c.1706G>A	NP_001299838.1:p.Arg569His
NM_001312910.1:c.1706G>A	NP_001299839.1:p.Arg569His
NM_001312911.1:c.1706G>A	NP_001299840.1:p.Arg569His
NM_022074.3:c.1706G>A	NP_071357.2:p.Arg569His
NM_198847.2:c.1706G>A	NP_942144.1:p.Arg569His
NM_001142519.3:c.1706G>A	NP_001135991.1:p.Arg569His
NM_001142520.3:c.1706G>A	NP_001135992.1:p.Arg569His
NM_001142521.3:c.1706G>A	NP_001135993.1:p.Arg569His
NM_001312909.2:c.1706G>A MANE Select	NP_001299838.1:p.Arg569His
NM_001312910.2:c.1706G>A	NP_001299839.1:p.Arg569His
NM_001312911.2:c.1706G>A	NP_001299840.1:p.Arg569His
NM_001369457.1:c.1706G>A	NP_001356386.1:p.Arg569His
NM_001374804.1:c.1706G>A	NP_001361733.1:p.Arg569His
NM_001374848.1:c.1706G>A	NP_001361777.1:p.Arg569His
NM_001374849.1:c.1706G>A	NP_001361778.1:p.Arg569His
NM_001374850.1:c.1706G>A	NP_001361779.1:p.Arg569His
NM_001374851.1:c.1706G>A	NP_001361780.1:p.Arg569His
NM_001374852.1:c.1706G>A	NP_001361781.1:p.Arg569His
NM_001374853.1:c.1706G>A	NP_001361782.1:p.Arg569His
NM_001374854.1:c.1706G>A	NP_001361783.1:p.Arg569His
NM_001374855.1:c.1706G>A	NP_001361784.1:p.Arg569His
NM_001374856.1:c.1706G>A	NP_001361785.1:p.Arg569His
NM_001374857.1:c.1706G>A	NP_001361786.1:p.Arg569His
NM_001374858.1:c.1706G>A	NP_001361787.1:p.Arg569His
NM_001374859.1:c.1706G>A	NP_001361788.1:p.Arg569His
NM_001374860.1:c.1706G>A	NP_001361789.1:p.Arg569His
NM_001374861.1:c.1706G>A	NP_001361790.1:p.Arg569His
NM_001374862.1:c.1706G>A	NP_001361791.1:p.Arg569His
NM_001374863.1:c.1706G>A	NP_001361792.1:p.Arg569His
NM_001374864.1:c.1706G>A	NP_001361793.1:p.Arg569His
NM_001374865.1:c.1706G>A	NP_001361794.1:p.Arg569His
NM_001374866.1:c.1706G>A	NP_001361795.1:p.Arg569His
NM_001374867.1:c.1706G>A	NP_001361796.1:p.Arg569His
NM_001374868.1:c.1706G>A	NP_001361797.1:p.Arg569His
NM_001374869.1:c.1706G>A	NP_001361798.1:p.Arg569His
NM_001374870.1:c.1706G>A	NP_001361799.1:p.Arg569His
NM_022074.4:c.1706G>A	NP_071357.2:p.Arg569His
NM_198847.3:c.1706G>A	NP_942144.1:p.Arg569His