Canonical Allele Identifier: CA6116852
Community Standard Title: NM_018026.4(PACS1):c.2327C>G (p.Thr776Ser)
Gene: PACS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66239175C>G , CM000673.2:g.66239175C>G GRCh38
NC_000011.9:g.66006646C>G , CM000673.1:g.66006646C>G GRCh37
NC_000011.8:g.65763222C>G NCBI36
NG_033900.1:g.173823C>G

Transcript Alleles

HGVS Amino-acid Change
NM_018026.4:c.2327C>G MANE Select NP_060496.2:p.Thr776Ser
ENST00000320580.9:c.2327C>G MANE Select ENSP00000316454.4:p.Thr776Ser
NM_018026.3:c.2327C>G NP_060496.2:p.Thr776Ser
ENST00000320580.8:c.2327C>G ENSP00000316454.4:p.Thr776Ser
ENST00000525798.1:n.365C>G
ENST00000529757.5:c.935C>G ENSP00000432858.1:p.Thr312Ser
ENST00000676419.1:n.364C>G
XM_011545162.1:c.2006C>G XP_011543464.1:p.Thr669Ser
XM_011545163.1:c.1997C>G XP_011543465.1:p.Thr666Ser
XM_011545164.1:c.1988C>G XP_011543466.1:p.Thr663Ser
XM_011545164.2:c.1988C>G XP_011543466.1:p.Thr663Ser