Canonical Allele Identifier: CA381339007

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66210377C>A , CM000673.2:g.66210377C>A	GRCh38
NC_000011.9:g.65977848C>A , CM000673.1:g.65977848C>A	GRCh37
NC_000011.8:g.65734424C>A	NCBI36
NG_033900.1:g.145025C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.460C>A MANE Select	NP_060496.2:p.Leu154Ile
ENST00000320580.9:c.460C>A MANE Select	ENSP00000316454.4:p.Leu154Ile
NM_018026.3:c.460C>A	NP_060496.2:p.Leu154Ile
ENST00000320580.8:c.460C>A	ENSP00000316454.4:p.Leu154Ile
ENST00000527224.1:n.584C>A
ENST00000527380.1:c.166C>A	ENSP00000432639.1:p.Leu56Ile
ENST00000533756.5:c.151C>A	ENSP00000437150.1:p.Leu51Ile
XM_011545162.1:c.139C>A	XP_011543464.1:p.Leu47Ile
XM_011545163.1:c.130C>A	XP_011543465.1:p.Leu44Ile
XM_011545164.1:c.121C>A	XP_011543466.1:p.Leu41Ile
XM_011545164.2:c.121C>A	XP_011543466.1:p.Leu41Ile
XR_001747924.1:n.671C>A