Canonical Allele Identifier: CA2614443916

Gene: PACS1

Linked Data

• gnomAD v4: 11-66211122-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66211122T>C , CM000673.2:g.66211122T>C	GRCh38
NC_000011.9:g.65978593T>C , CM000673.1:g.65978593T>C	GRCh37
NC_000011.8:g.65735169T>C	NCBI36
NG_033900.1:g.145770T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.535-12T>C MANE Select	ENSP00000316454.4:n.535-12T>C
ENST00000320580.8:c.535-12T>C	ENSP00000316454.4:n.535-12T>C
ENST00000527224.1:n.659-12T>C
ENST00000527380.1:c.241-12T>C	ENSP00000432639.1:n.241-12T>C
ENST00000533756.5:c.226-12T>C	ENSP00000437150.1:n.226-12T>C
NM_018026.3:c.535-12T>C	NP_060496.2:n.535-12T>C
XM_011545162.1:c.214-12T>C	XP_011543464.1:n.214-12T>C
XM_011545163.1:c.205-12T>C	XP_011543465.1:n.205-12T>C
XM_011545164.1:c.196-12T>C	XP_011543466.1:n.196-12T>C
XM_011545164.2:c.196-12T>C	XP_011543466.1:n.196-12T>C
XR_001747924.1:n.746-12T>C
NM_018026.4:c.535-12T>C MANE Select	NP_060496.2:n.535-12T>C