Canonical Allele Identifier: CA6116231

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66193514G>A , CM000673.2:g.66193514G>A	GRCh38
NC_000011.9:g.65960985G>A , CM000673.1:g.65960985G>A	GRCh37
NC_000011.8:g.65717561G>A	NCBI36
NG_033900.1:g.128162G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.385G>A MANE Select	NP_060496.2:p.Val129Ile
ENST00000320580.9:c.385G>A MANE Select	ENSP00000316454.4:p.Val129Ile
NM_018026.3:c.385G>A	NP_060496.2:p.Val129Ile
ENST00000320580.8:c.385G>A	ENSP00000316454.4:p.Val129Ile
ENST00000527224.1:n.509G>A
ENST00000527380.1:c.91G>A	ENSP00000432639.1:p.Val31Ile
ENST00000533756.5:c.76G>A	ENSP00000437150.1:p.Val26Ile
XM_011545162.1:c.64G>A	XP_011543464.1:p.Val22Ile
XM_011545163.1:c.55G>A	XP_011543465.1:p.Val19Ile
XM_011545164.1:c.46G>A	XP_011543466.1:p.Val16Ile
XM_011545164.2:c.46G>A	XP_011543466.1:p.Val16Ile
XR_001747924.1:n.596G>A