Canonical Allele Identifier: CA223456703

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66193559G>A , CM000673.2:g.66193559G>A	GRCh38
NC_000011.9:g.65961030G>A , CM000673.1:g.65961030G>A	GRCh37
NC_000011.8:g.65717606G>A	NCBI36
NG_033900.1:g.128207G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.430G>A MANE Select	NP_060496.2:p.Ala144Thr
ENST00000320580.9:c.430G>A MANE Select	ENSP00000316454.4:p.Ala144Thr
NM_018026.3:c.430G>A	NP_060496.2:p.Ala144Thr
ENST00000320580.8:c.430G>A	ENSP00000316454.4:p.Ala144Thr
ENST00000527224.1:n.554G>A
ENST00000527380.1:c.136G>A	ENSP00000432639.1:p.Ala46Thr
ENST00000533756.5:c.121G>A	ENSP00000437150.1:p.Ala41Thr
XM_011545162.1:c.109G>A	XP_011543464.1:p.Ala37Thr
XM_011545163.1:c.100G>A	XP_011543465.1:p.Ala34Thr
XM_011545164.1:c.91G>A	XP_011543466.1:p.Ala31Thr
XM_011545164.2:c.91G>A	XP_011543466.1:p.Ala31Thr
XR_001747924.1:n.641G>A