Canonical Allele Identifier: CA381350096

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66216586G>T , CM000673.2:g.66216586G>T	GRCh38
NC_000011.9:g.65984057G>T , CM000673.1:g.65984057G>T	GRCh37
NC_000011.8:g.65740633G>T	NCBI36
NG_033900.1:g.151234G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.872G>T MANE Select	ENSP00000316454.4:p.Gly291Val
ENST00000320580.8:c.872G>T	ENSP00000316454.4:p.Gly291Val
ENST00000524784.1:c.44G>T	ENSP00000435037.1:p.Gly15Val
ENST00000527224.1:n.996G>T
ENST00000531298.5:c.133G>T
NM_018026.3:c.872G>T	NP_060496.2:p.Gly291Val
XM_011545162.1:c.551G>T	XP_011543464.1:p.Gly184Val
XM_011545163.1:c.542G>T	XP_011543465.1:p.Gly181Val
XM_011545164.1:c.533G>T	XP_011543466.1:p.Gly178Val
XM_011545164.2:c.533G>T	XP_011543466.1:p.Gly178Val
XR_001747924.1:n.1083G>T
NM_018026.4:c.872G>T MANE Select	NP_060496.2:p.Gly291Val