Canonical Allele Identifier: CA224039770

Gene: PACS1

Linked Data

• dbSNP Id: rs776882316
• gnomAD v2: 11-66009475-C-G
• gnomAD v3: 11-66242004-C-G
• gnomAD v4: 11-66242004-C-G
• MyVariant Identifiers: chr11:g.66009475C>G (hg19) ; chr11:g.66242004C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66242004C>G , CM000673.2:g.66242004C>G	GRCh38
NC_000011.9:g.66009475C>G , CM000673.1:g.66009475C>G	GRCh37
NC_000011.8:g.65766051C>G	NCBI36
NG_033900.1:g.176652C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.2656+351C>G MANE Select	ENSP00000316454.4:n.2656+351C>G
ENST00000320580.8:c.2656+351C>G	ENSP00000316454.4:n.2656+351C>G
ENST00000524815.5:c.40+351C>G	ENSP00000433991.1:n.40+351C>G
ENST00000529677.1:c.206+351C>G
ENST00000529757.5:c.1264+351C>G	ENSP00000432858.1:n.1264+351C>G
ENST00000531597.1:c.40+351C>G	ENSP00000434012.1:n.40+351C>G
NM_018026.3:c.2656+351C>G	NP_060496.2:n.2656+351C>G
XM_011545162.1:c.2335+351C>G	XP_011543464.1:n.2335+351C>G
XM_011545163.1:c.2326+351C>G	XP_011543465.1:n.2326+351C>G
XM_011545164.1:c.2317+351C>G	XP_011543466.1:n.2317+351C>G
XM_011545164.2:c.2317+351C>G	XP_011543466.1:n.2317+351C>G
NM_018026.4:c.2656+351C>G MANE Select	NP_060496.2:n.2656+351C>G