Canonical Allele Identifier: CA2614443913

Gene: PACS1

Linked Data

• gnomAD v4: 11-66211116-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66211116C>A , CM000673.2:g.66211116C>A	GRCh38
NC_000011.9:g.65978587C>A , CM000673.1:g.65978587C>A	GRCh37
NC_000011.8:g.65735163C>A	NCBI36
NG_033900.1:g.145764C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.535-18C>A MANE Select	ENSP00000316454.4:n.535-18C>A
ENST00000320580.8:c.535-18C>A	ENSP00000316454.4:n.535-18C>A
ENST00000527224.1:n.659-18C>A
ENST00000527380.1:c.241-18C>A	ENSP00000432639.1:n.241-18C>A
ENST00000533756.5:c.226-18C>A	ENSP00000437150.1:n.226-18C>A
NM_018026.3:c.535-18C>A	NP_060496.2:n.535-18C>A
XM_011545162.1:c.214-18C>A	XP_011543464.1:n.214-18C>A
XM_011545163.1:c.205-18C>A	XP_011543465.1:n.205-18C>A
XM_011545164.1:c.196-18C>A	XP_011543466.1:n.196-18C>A
XM_011545164.2:c.196-18C>A	XP_011543466.1:n.196-18C>A
XR_001747924.1:n.746-18C>A
NM_018026.4:c.535-18C>A MANE Select	NP_060496.2:n.535-18C>A