Canonical Allele Identifier: CA6116478

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66220671G>A , CM000673.2:g.66220671G>A	GRCh38
NC_000011.9:g.65988142G>A , CM000673.1:g.65988142G>A	GRCh37
NC_000011.8:g.65744718G>A	NCBI36
NG_033900.1:g.155319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.1079G>A MANE Select	ENSP00000316454.4:p.Arg360Gln
ENST00000320580.8:c.1079G>A	ENSP00000316454.4:p.Arg360Gln
ENST00000524784.1:c.363G>A	ENSP00000435037.1:n.363G>A
ENST00000531298.5:c.541G>A
ENST00000533811.1:n.384G>A
ENST00000534273.1:n.2G>A
NM_018026.3:c.1079G>A	NP_060496.2:p.Arg360Gln
XM_011545162.1:c.758G>A	XP_011543464.1:p.Arg253Gln
XM_011545163.1:c.749G>A	XP_011543465.1:p.Arg250Gln
XM_011545164.1:c.740G>A	XP_011543466.1:p.Arg247Gln
XM_011545164.2:c.740G>A	XP_011543466.1:p.Arg247Gln
XR_001747924.1:n.1290G>A
NM_018026.4:c.1079G>A MANE Select	NP_060496.2:p.Arg360Gln