Canonical Allele Identifier: CA381378131
Community Standard Title: NM_018026.4(PACS1):c.2326A>T (p.Thr776Ser)
Gene: PACS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66239174A>T , CM000673.2:g.66239174A>T GRCh38
NC_000011.9:g.66006645A>T , CM000673.1:g.66006645A>T GRCh37
NC_000011.8:g.65763221A>T NCBI36
NG_033900.1:g.173822A>T

Transcript Alleles

HGVS Amino-acid Change
NM_018026.4:c.2326A>T MANE Select NP_060496.2:p.Thr776Ser
ENST00000320580.9:c.2326A>T MANE Select ENSP00000316454.4:p.Thr776Ser
NM_018026.3:c.2326A>T NP_060496.2:p.Thr776Ser
ENST00000320580.8:c.2326A>T ENSP00000316454.4:p.Thr776Ser
ENST00000525798.1:n.364A>T
ENST00000529757.5:c.934A>T ENSP00000432858.1:p.Thr312Ser
ENST00000676419.1:n.363A>T
XM_011545162.1:c.2005A>T XP_011543464.1:p.Thr669Ser
XM_011545163.1:c.1996A>T XP_011543465.1:p.Thr666Ser
XM_011545164.1:c.1987A>T XP_011543466.1:p.Thr663Ser
XM_011545164.2:c.1987A>T XP_011543466.1:p.Thr663Ser