Canonical Allele Identifier: CA8962082

Gene: CFAP53

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.50227413G>A , CM000680.2:g.50227413G>A	GRCh38
NC_000018.9:g.47753783G>A , CM000680.1:g.47753783G>A	GRCh37
NC_000018.8:g.46007781G>A	NCBI36
NG_042815.1:g.44110C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_145020.5:c.1513C>T MANE Select	NP_659457.2:p.Arg505Cys
ENST00000398545.5:c.1513C>T MANE Select	ENSP00000381553.3:p.Arg505Cys
NM_145020.3:c.1513C>T	NP_659457.2:p.Arg505Cys
NM_145020.4:c.1513C>T	NP_659457.2:p.Arg505Cys
ENST00000398545.4:c.1513C>T	ENSP00000381553.3:p.Arg505Cys
XM_024451100.1:c.916C>T	XP_024306868.1:p.Arg306Cys