Canonical Allele Identifier: CA2598247883

Gene: PACS1

Linked Data

• dbSNP Id: rs1414315742
• gnomAD v3: 11-66241846-G-C
• gnomAD v4: 11-66241846-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66241846G>C , CM000673.2:g.66241846G>C	GRCh38
NC_000011.9:g.66009317G>C , CM000673.1:g.66009317G>C	GRCh37
NC_000011.8:g.65765893G>C	NCBI36
NG_033900.1:g.176494G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.2656+193G>C MANE Select	ENSP00000316454.4:n.2656+193G>C
ENST00000320580.8:c.2656+193G>C	ENSP00000316454.4:n.2656+193G>C
ENST00000524815.5:c.40+193G>C	ENSP00000433991.1:n.40+193G>C
ENST00000529677.1:c.206+193G>C
ENST00000529757.5:c.1264+193G>C	ENSP00000432858.1:n.1264+193G>C
ENST00000531597.1:c.40+193G>C	ENSP00000434012.1:n.40+193G>C
NM_018026.3:c.2656+193G>C	NP_060496.2:n.2656+193G>C
XM_011545162.1:c.2335+193G>C	XP_011543464.1:n.2335+193G>C
XM_011545163.1:c.2326+193G>C	XP_011543465.1:n.2326+193G>C
XM_011545164.1:c.2317+193G>C	XP_011543466.1:n.2317+193G>C
XM_011545164.2:c.2317+193G>C	XP_011543466.1:n.2317+193G>C
NM_018026.4:c.2656+193G>C MANE Select	NP_060496.2:n.2656+193G>C