Canonical Allele Identifier: CA6116511
Community Standard Title: NM_018026.4(PACS1):c.1238C>T (p.Thr413Met)
Gene: PACS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66221192C>T , CM000673.2:g.66221192C>T GRCh38
NC_000011.9:g.65988663C>T , CM000673.1:g.65988663C>T GRCh37
NC_000011.8:g.65745239C>T NCBI36
NG_033900.1:g.155840C>T

Transcript Alleles

HGVS Amino-acid Change
NM_018026.4:c.1238C>T MANE Select NP_060496.2:p.Thr413Met
ENST00000320580.9:c.1238C>T MANE Select ENSP00000316454.4:p.Thr413Met
NM_018026.3:c.1238C>T NP_060496.2:p.Thr413Met
ENST00000320580.8:c.1238C>T ENSP00000316454.4:p.Thr413Met
ENST00000524784.1:c.522C>T ENSP00000435037.1:n.522C>T
ENST00000534273.1:n.161C>T
XM_011545162.1:c.917C>T XP_011543464.1:p.Thr306Met
XM_011545163.1:c.908C>T XP_011543465.1:p.Thr303Met
XM_011545164.1:c.899C>T XP_011543466.1:p.Thr300Met
XM_011545164.2:c.899C>T XP_011543466.1:p.Thr300Met
XR_001747924.1:n.1449C>T