Canonical Allele Identifier: CA6116898
Gene: PACS1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.66241524G>A
GRCh37 chr11:g.66008995G>A
Revel Score:
ENST00000320580 (MANE Select) 0.073
ENST00000529757 0.073
ENST00000529677 0.079
gnomAD v2:
11:66008995 G / A
gnomAD v3:
11:66241524 G / A
gnomAD v4:
chr11-66241524-G-A
Joint Max Group AF 0.00019902 (SAS)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.0002111 (SAS)
ClinVar Allele:
461567
ClinVar RCV:
RCV000553865
RCV003403326
ClinVar Variation:
473410
dbSNP:
369846760
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66241524G>A , CM000673.2:g.66241524G>A GRCh38
NC_000011.9:g.66008995G>A , CM000673.1:g.66008995G>A GRCh37
NC_000011.8:g.65765571G>A NCBI36
NG_033900.1:g.176172G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320580.9:c.2527G>A MANE Select ENSP00000316454.4:p.Ala843Thr
ENST00000320580.8:c.2527G>A ENSP00000316454.4:p.Ala843Thr
ENST00000524815.5:c.-90G>A ENSP00000433991.1:n.-90G>A
ENST00000525798.1:n.565G>A
ENST00000529677.1:c.77G>A
ENST00000529757.5:c.1135G>A ENSP00000432858.1:p.Ala379Thr
ENST00000531597.1:c.-90G>A ENSP00000434012.1:n.-90G>A
NM_018026.3:c.2527G>A NP_060496.2:p.Ala843Thr
XM_011545162.1:c.2206G>A XP_011543464.1:p.Ala736Thr
XM_011545163.1:c.2197G>A XP_011543465.1:p.Ala733Thr
XM_011545164.1:c.2188G>A XP_011543466.1:p.Ala730Thr
XM_011545164.2:c.2188G>A XP_011543466.1:p.Ala730Thr
NM_018026.4:c.2527G>A MANE Select NP_060496.2:p.Ala843Thr
Search 100 bp 5'
Search 100 bp 3'