Canonical Allele Identifier: CA402437224
Community Standard Title: NM_145020.5(CFAP53):c.1213+1G>A
Gene: CFAP53 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.50242899C>T , CM000680.2:g.50242899C>T GRCh38
NC_000018.9:g.47769269C>T , CM000680.1:g.47769269C>T GRCh37
NC_000018.8:g.46023267C>T NCBI36
NG_042815.1:g.28624G>A

Transcript Alleles

HGVS Amino-acid Change
NM_145020.5:c.1213+1G>A MANE Select NP_659457.2:n.1213+1G>A
ENST00000398545.5:c.1213+1G>A MANE Select ENSP00000381553.3:n.1213+1G>A
NM_145020.3:c.1213+1G>A NP_659457.2:n.1213+1G>A
NM_145020.4:c.1213+1G>A NP_659457.2:n.1213+1G>A
ENST00000398545.4:c.1213+1G>A ENSP00000381553.3:n.1213+1G>A
XM_024451100.1:c.616+1G>A XP_024306868.1:n.616+1G>A
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