Canonical Allele Identifier: CA6116388

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66216741G>A , CM000673.2:g.66216741G>A	GRCh38
NC_000011.9:g.65984212G>A , CM000673.1:g.65984212G>A	GRCh37
NC_000011.8:g.65740788G>A	NCBI36
NG_033900.1:g.151389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.944G>A MANE Select	ENSP00000316454.4:p.Arg315Gln
ENST00000320580.8:c.944G>A	ENSP00000316454.4:p.Arg315Gln
ENST00000524784.1:c.116G>A	ENSP00000435037.1:p.Arg39Gln
ENST00000527224.1:n.1068G>A
ENST00000531298.5:c.205G>A
NM_018026.3:c.944G>A	NP_060496.2:p.Arg315Gln
XM_011545162.1:c.623G>A	XP_011543464.1:p.Arg208Gln
XM_011545163.1:c.614G>A	XP_011543465.1:p.Arg205Gln
XM_011545164.1:c.605G>A	XP_011543466.1:p.Arg202Gln
XM_011545164.2:c.605G>A	XP_011543466.1:p.Arg202Gln
XR_001747924.1:n.1155G>A
NM_018026.4:c.944G>A MANE Select	NP_060496.2:p.Arg315Gln