Canonical Allele Identifier: CA6116830
Community Standard Title: NM_018026.4(PACS1):c.2281C>A (p.Pro761Thr)
Gene: PACS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66238834C>A , CM000673.2:g.66238834C>A GRCh38
NC_000011.9:g.66006305C>A , CM000673.1:g.66006305C>A GRCh37
NC_000011.8:g.65762881C>A NCBI36
NG_033900.1:g.173482C>A

Transcript Alleles

HGVS Amino-acid Change
NM_018026.4:c.2281C>A MANE Select NP_060496.2:p.Pro761Thr
ENST00000320580.9:c.2281C>A MANE Select ENSP00000316454.4:p.Pro761Thr
NM_018026.3:c.2281C>A NP_060496.2:p.Pro761Thr
ENST00000320580.8:c.2281C>A ENSP00000316454.4:p.Pro761Thr
ENST00000525798.1:n.319C>A
ENST00000529757.5:c.889C>A ENSP00000432858.1:p.Pro297Thr
ENST00000676419.1:n.318C>A
XM_011545162.1:c.1960C>A XP_011543464.1:p.Pro654Thr
XM_011545163.1:c.1951C>A XP_011543465.1:p.Pro651Thr
XM_011545164.1:c.1942C>A XP_011543466.1:p.Pro648Thr
XM_011545164.2:c.1942C>A XP_011543466.1:p.Pro648Thr