Canonical Allele Identifier: CA355983697

Gene: FAM53A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1655054C>T , CM000666.2:g.1655054C>T	GRCh38
NC_000004.11:g.1656781C>T , CM000666.1:g.1656781C>T	GRCh37
NC_000004.10:g.1626578C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001174070.3:c.806G>A MANE Select	NP_001167541.1:p.Arg269Lys
ENST00000308132.11:c.806G>A MANE Select	ENSP00000310057.6:p.Arg269Lys
NM_001013622.3:c.806G>A	NP_001013644.1:p.Arg269Lys
NM_001174070.2:c.806G>A	NP_001167541.1:p.Arg269Lys
NM_001297435.1:c.806G>A	NP_001284364.1:p.Arg269Lys
ENST00000308132.10:c.806G>A	ENSP00000310057.6:p.Arg269Lys
ENST00000461064.5:c.806G>A	ENSP00000418243.1:p.Arg269Lys
ENST00000472884.6:c.806G>A	ENSP00000426260.1:p.Arg269Lys
ENST00000489029.1:c.355G>A
ENST00000489363.5:c.806G>A	ENSP00000419044.1:p.Arg269Lys
XM_005247948.2:c.806G>A	XP_005248005.1:p.Arg269Lys
XM_005247948.3:c.806G>A	XP_005248005.1:p.Arg269Lys
XM_011513402.1:c.806G>A	XP_011511704.1:p.Arg269Lys
XM_011513402.2:c.806G>A	XP_011511704.1:p.Arg269Lys
XM_011513403.1:c.806G>A	XP_011511705.1:p.Arg269Lys
XM_011513404.1:c.806G>A	XP_011511706.1:p.Arg269Lys
XM_011513404.2:c.806G>A	XP_011511706.1:p.Arg269Lys
XM_011513405.1:c.806G>A	XP_011511707.1:p.Arg269Lys
XM_017007802.1:c.806G>A	XP_016863291.1:p.Arg269Lys
XM_024453912.1:c.806G>A	XP_024309680.1:p.Arg269Lys
XR_924913.1:n.1701G>A
XR_924913.3:n.1701G>A