Canonical Allele Identifier: CA8962203

Gene: CFAP53

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.50243012G>T , CM000680.2:g.50243012G>T	GRCh38
NC_000018.9:g.47769382G>T , CM000680.1:g.47769382G>T	GRCh37
NC_000018.8:g.46023380G>T	NCBI36
NG_042815.1:g.28511C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_145020.5:c.1101C>A MANE Select	NP_659457.2:p.Asp367Glu
ENST00000398545.5:c.1101C>A MANE Select	ENSP00000381553.3:p.Asp367Glu
NM_145020.3:c.1101C>A	NP_659457.2:p.Asp367Glu
NM_145020.4:c.1101C>A	NP_659457.2:p.Asp367Glu
ENST00000398545.4:c.1101C>A	ENSP00000381553.3:p.Asp367Glu
XM_024451100.1:c.504C>A	XP_024306868.1:p.Asp168Glu