Canonical Allele Identifier: CA6116294

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66211236G>A , CM000673.2:g.66211236G>A	GRCh38
NC_000011.9:g.65978707G>A , CM000673.1:g.65978707G>A	GRCh37
NC_000011.8:g.65735283G>A	NCBI36
NG_033900.1:g.145884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.637G>A MANE Select	ENSP00000316454.4:p.Val213Met
ENST00000320580.8:c.637G>A	ENSP00000316454.4:p.Val213Met
ENST00000527224.1:n.761G>A
ENST00000527380.1:c.343G>A	ENSP00000432639.1:p.Val115Met
NM_018026.3:c.637G>A	NP_060496.2:p.Val213Met
XM_011545162.1:c.316G>A	XP_011543464.1:p.Val106Met
XM_011545163.1:c.307G>A	XP_011543465.1:p.Val103Met
XM_011545164.1:c.298G>A	XP_011543466.1:p.Val100Met
XM_011545164.2:c.298G>A	XP_011543466.1:p.Val100Met
XR_001747924.1:n.848G>A
NM_018026.4:c.637G>A MANE Select	NP_060496.2:p.Val213Met