Canonical Allele Identifier: CA600231227

Gene: PACS1

Linked Data

• ClinVar Variation Id: 2054039
• ClinVar RCV Id: RCV002927684
• dbSNP Id: rs1252685003
• gnomAD v2: 11-66009133-C-A
• gnomAD v4: 11-66241662-C-A
• MyVariant Identifiers: chr11:g.66009133C>A (hg19) ; chr11:g.66241662C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66241662C>A , CM000673.2:g.66241662C>A	GRCh38
NC_000011.9:g.66009133C>A , CM000673.1:g.66009133C>A	GRCh37
NC_000011.8:g.65765709C>A	NCBI36
NG_033900.1:g.176310C>A

Transcript Alleles

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