Canonical Allele Identifier: CA2614450359

Gene: PACS1

Linked Data

• gnomAD v4: 11-66241770-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66241770C>T , CM000673.2:g.66241770C>T	GRCh38
NC_000011.9:g.66009241C>T , CM000673.1:g.66009241C>T	GRCh37
NC_000011.8:g.65765817C>T	NCBI36
NG_033900.1:g.176418C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.2656+117C>T MANE Select	ENSP00000316454.4:n.2656+117C>T
ENST00000320580.8:c.2656+117C>T	ENSP00000316454.4:n.2656+117C>T
ENST00000524815.5:c.40+117C>T	ENSP00000433991.1:n.40+117C>T
ENST00000529677.1:c.206+117C>T
ENST00000529757.5:c.1264+117C>T	ENSP00000432858.1:n.1264+117C>T
ENST00000531597.1:c.40+117C>T	ENSP00000434012.1:n.40+117C>T
NM_018026.3:c.2656+117C>T	NP_060496.2:n.2656+117C>T
XM_011545162.1:c.2335+117C>T	XP_011543464.1:n.2335+117C>T
XM_011545163.1:c.2326+117C>T	XP_011543465.1:n.2326+117C>T
XM_011545164.1:c.2317+117C>T	XP_011543466.1:n.2317+117C>T
XM_011545164.2:c.2317+117C>T	XP_011543466.1:n.2317+117C>T
NM_018026.4:c.2656+117C>T MANE Select	NP_060496.2:n.2656+117C>T