Canonical Allele Identifier: CA224039728

Gene: PACS1

Linked Data

• dbSNP Id: rs559026014
• gnomAD v2: 11-66009418-C-T
• gnomAD v3: 11-66241947-C-T
• gnomAD v4: 11-66241947-C-T
• MyVariant Identifiers: chr11:g.66009418C>T (hg19) ; chr11:g.66241947C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66241947C>T , CM000673.2:g.66241947C>T	GRCh38
NC_000011.9:g.66009418C>T , CM000673.1:g.66009418C>T	GRCh37
NC_000011.8:g.65765994C>T	NCBI36
NG_033900.1:g.176595C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.2656+294C>T MANE Select	ENSP00000316454.4:n.2656+294C>T
ENST00000320580.8:c.2656+294C>T	ENSP00000316454.4:n.2656+294C>T
ENST00000524815.5:c.40+294C>T	ENSP00000433991.1:n.40+294C>T
ENST00000529677.1:c.206+294C>T
ENST00000529757.5:c.1264+294C>T	ENSP00000432858.1:n.1264+294C>T
ENST00000531597.1:c.40+294C>T	ENSP00000434012.1:n.40+294C>T
NM_018026.3:c.2656+294C>T	NP_060496.2:n.2656+294C>T
XM_011545162.1:c.2335+294C>T	XP_011543464.1:n.2335+294C>T
XM_011545163.1:c.2326+294C>T	XP_011543465.1:n.2326+294C>T
XM_011545164.1:c.2317+294C>T	XP_011543466.1:n.2317+294C>T
XM_011545164.2:c.2317+294C>T	XP_011543466.1:n.2317+294C>T
NM_018026.4:c.2656+294C>T MANE Select	NP_060496.2:n.2656+294C>T