Canonical Allele Identifier: CA6116325

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66216170G>A , CM000673.2:g.66216170G>A	GRCh38
NC_000011.9:g.65983641G>A , CM000673.1:g.65983641G>A	GRCh37
NC_000011.8:g.65740217G>A	NCBI36
NG_033900.1:g.150818G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.712G>A MANE Select	NP_060496.2:p.Val238Met
ENST00000320580.9:c.712G>A MANE Select	ENSP00000316454.4:p.Val238Met
NM_018026.3:c.712G>A	NP_060496.2:p.Val238Met
ENST00000320580.8:c.712G>A	ENSP00000316454.4:p.Val238Met
ENST00000527224.1:n.836G>A
ENST00000527380.1:c.418G>A	ENSP00000432639.1:p.Val140Met
XM_011545162.1:c.391G>A	XP_011543464.1:p.Val131Met
XM_011545163.1:c.382G>A	XP_011543465.1:p.Val128Met
XM_011545164.1:c.373G>A	XP_011543466.1:p.Val125Met
XM_011545164.2:c.373G>A	XP_011543466.1:p.Val125Met
XR_001747924.1:n.923G>A