Canonical Allele Identifier: CA223456696
Community Standard Title: NM_018026.4(PACS1):c.401T>C (p.Met134Thr)
Gene: PACS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66193530T>C , CM000673.2:g.66193530T>C GRCh38
NC_000011.9:g.65961001T>C , CM000673.1:g.65961001T>C GRCh37
NC_000011.8:g.65717577T>C NCBI36
NG_033900.1:g.128178T>C

Transcript Alleles

HGVS Amino-acid Change
NM_018026.4:c.401T>C MANE Select NP_060496.2:p.Met134Thr
ENST00000320580.9:c.401T>C MANE Select ENSP00000316454.4:p.Met134Thr
NM_018026.3:c.401T>C NP_060496.2:p.Met134Thr
ENST00000320580.8:c.401T>C ENSP00000316454.4:p.Met134Thr
ENST00000527224.1:n.525T>C
ENST00000527380.1:c.107T>C ENSP00000432639.1:p.Met36Thr
ENST00000533756.5:c.92T>C ENSP00000437150.1:p.Met31Thr
XM_011545162.1:c.80T>C XP_011543464.1:p.Met27Thr
XM_011545163.1:c.71T>C XP_011543465.1:p.Met24Thr
XM_011545164.1:c.62T>C XP_011543466.1:p.Met21Thr
XM_011545164.2:c.62T>C XP_011543466.1:p.Met21Thr
XR_001747924.1:n.612T>C