Canonical Allele Identifier: CA16619378
Gene: PACS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 421421
ClinVar RCV Id: RCV000485538
dbSNP Id: rs1064795125
MyVariant Identifiers: chr11:g.66009125G>C (hg19) chr11:g.66241654G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66241654G>C , CM000673.2:g.66241654G>C GRCh38
NC_000011.9:g.66009125G>C , CM000673.1:g.66009125G>C GRCh37
NC_000011.8:g.65765701G>C NCBI36
NG_033900.1:g.176302G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000320580.9:c.2656+1G>C MANE Select ENSP00000316454.4:n.2656+1G>C
ENST00000320580.8:c.2656+1G>C ENSP00000316454.4:n.2656+1G>C
ENST00000524815.5:c.40+1G>C ENSP00000433991.1:n.40+1G>C
ENST00000529677.1:c.206+1G>C
ENST00000529757.5:c.1264+1G>C ENSP00000432858.1:n.1264+1G>C
ENST00000531597.1:c.40+1G>C ENSP00000434012.1:n.40+1G>C
NM_018026.3:c.2656+1G>C NP_060496.2:n.2656+1G>C
XM_011545162.1:c.2335+1G>C XP_011543464.1:n.2335+1G>C
XM_011545163.1:c.2326+1G>C XP_011543465.1:n.2326+1G>C
XM_011545164.1:c.2317+1G>C XP_011543466.1:n.2317+1G>C
XM_011545164.2:c.2317+1G>C XP_011543466.1:n.2317+1G>C
NM_018026.4:c.2656+1G>C MANE Select NP_060496.2:n.2656+1G>C
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