Canonical Allele Identifier: CA13279890
Gene: PRTFDC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.24822981T>G , CM000672.2:g.24822981T>G GRCh38
NC_000010.10:g.25111910T>G , CM000672.1:g.25111910T>G GRCh37
NC_000010.9:g.25151916T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XM_011519585.1:c.631-9330A>C XP_011517887.1:n.631-9330A>C
XM_011519586.1:c.580-9330A>C XP_011517888.1:n.580-9330A>C
XM_011519587.1:c.580-9330A>C XP_011517889.1:n.580-9330A>C
XM_011519588.1:c.451-9330A>C XP_011517890.1:n.451-9330A>C