Canonical Allele Identifier: CA6116791

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66235336G>A , CM000673.2:g.66235336G>A	GRCh38
NC_000011.9:g.66002807G>A , CM000673.1:g.66002807G>A	GRCh37
NC_000011.8:g.65759383G>A	NCBI36
NG_033900.1:g.169984G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.2140G>A MANE Select	NP_060496.2:p.Val714Ile
ENST00000320580.9:c.2140G>A MANE Select	ENSP00000316454.4:p.Val714Ile
NM_018026.3:c.2140G>A	NP_060496.2:p.Val714Ile
ENST00000320580.8:c.2140G>A	ENSP00000316454.4:p.Val714Ile
ENST00000529757.5:c.748G>A	ENSP00000432858.1:p.Val250Ile
ENST00000529795.1:n.267G>A
ENST00000676419.1:n.177G>A
XM_011545162.1:c.1819G>A	XP_011543464.1:p.Val607Ile
XM_011545163.1:c.1810G>A	XP_011543465.1:p.Val604Ile
XM_011545164.1:c.1801G>A	XP_011543466.1:p.Val601Ile
XM_011545164.2:c.1801G>A	XP_011543466.1:p.Val601Ile