Canonical Allele Identifier: CA6116223
Community Standard Title: NM_018026.4(PACS1):c.357-4C>T
Gene: PACS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66193482C>T , CM000673.2:g.66193482C>T GRCh38
NC_000011.9:g.65960953C>T , CM000673.1:g.65960953C>T GRCh37
NC_000011.8:g.65717529C>T NCBI36
NG_033900.1:g.128130C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018026.4:c.357-4C>T MANE Select NP_060496.2:n.357-4C>T
ENST00000320580.9:c.357-4C>T MANE Select ENSP00000316454.4:n.357-4C>T
NM_018026.3:c.357-4C>T NP_060496.2:n.357-4C>T
ENST00000320580.8:c.357-4C>T ENSP00000316454.4:n.357-4C>T
ENST00000527224.1:n.481-4C>T
ENST00000527380.1:c.63-4C>T ENSP00000432639.1:n.63-4C>T
ENST00000533756.5:c.48-4C>T ENSP00000437150.1:n.48-4C>T
XM_011545162.1:c.36-4C>T XP_011543464.1:n.36-4C>T
XM_011545163.1:c.27-4C>T XP_011543465.1:n.27-4C>T
XM_011545164.1:c.18-4C>T XP_011543466.1:n.18-4C>T
XM_011545164.2:c.18-4C>T XP_011543466.1:n.18-4C>T
XR_001747924.1:n.568-4C>T