Canonical Allele Identifier: CA6116668

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66232988G>A , CM000673.2:g.66232988G>A	GRCh38
NC_000011.9:g.66000459G>A , CM000673.1:g.66000459G>A	GRCh37
NC_000011.8:g.65757035G>A	NCBI36
NG_033900.1:g.167636G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.1760G>A MANE Select	NP_060496.2:p.Arg587Gln
ENST00000320580.9:c.1760G>A MANE Select	ENSP00000316454.4:p.Arg587Gln
NM_018026.3:c.1760G>A	NP_060496.2:p.Arg587Gln
ENST00000320580.8:c.1760G>A	ENSP00000316454.4:p.Arg587Gln
ENST00000528935.1:c.-98G>A	ENSP00000437052.1:n.-98G>A
ENST00000529757.5:c.368G>A	ENSP00000432858.1:p.Arg123Gln
XM_011545162.1:c.1439G>A	XP_011543464.1:p.Arg480Gln
XM_011545163.1:c.1430G>A	XP_011543465.1:p.Arg477Gln
XM_011545164.1:c.1421G>A	XP_011543466.1:p.Arg474Gln
XM_011545164.2:c.1421G>A	XP_011543466.1:p.Arg474Gln