Canonical Allele Identifier: CA154216

Gene: PACS1

Linked Data

• ClinVar Variation Id: 129872
• ClinVar RCV Id: RCV000117889 ; RCV001521847 ; RCV002312206 ; RCV001650962
• dbSNP Id: rs524268
• ExAC: 11:66010633 T / C
• gnomAD v2: 11-66010633-T-C
• gnomAD v3: 11-66243162-T-C
• gnomAD v4: 11-66243162-T-C
• MyVariant Identifiers: chr11:g.66010633T>C (hg19) ; chr11:g.66243162T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66243162T>C , CM000673.2:g.66243162T>C	GRCh38
NC_000011.9:g.66010633T>C , CM000673.1:g.66010633T>C	GRCh37
NC_000011.8:g.65767209T>C	NCBI36
NG_033900.1:g.177810T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.2777-3T>C MANE Select	ENSP00000316454.4:n.2777-3T>C
ENST00000320580.8:c.2777-3T>C	ENSP00000316454.4:n.2777-3T>C
ENST00000524815.5:c.161-3T>C	ENSP00000433991.1:n.161-3T>C
ENST00000529677.1:c.207-3T>C
ENST00000529757.5:c.1385-3T>C	ENSP00000432858.1:n.1385-3T>C
ENST00000531597.1:c.161-3T>C	ENSP00000434012.1:n.161-3T>C
NM_018026.3:c.2777-3T>C	NP_060496.2:n.2777-3T>C
XM_011545162.1:c.2456-3T>C	XP_011543464.1:n.2456-3T>C
XM_011545163.1:c.2447-3T>C	XP_011543465.1:n.2447-3T>C
XM_011545164.1:c.2438-3T>C	XP_011543466.1:n.2438-3T>C
XM_011545164.2:c.2438-3T>C	XP_011543466.1:n.2438-3T>C
NM_018026.4:c.2777-3T>C MANE Select	NP_060496.2:n.2777-3T>C