Canonical Allele Identifier: CA6116240

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66193582G>A , CM000673.2:g.66193582G>A	GRCh38
NC_000011.9:g.65961053G>A , CM000673.1:g.65961053G>A	GRCh37
NC_000011.8:g.65717629G>A	NCBI36
NG_033900.1:g.128230G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.444+9G>A MANE Select	NP_060496.2:n.444+9G>A
ENST00000320580.9:c.444+9G>A MANE Select	ENSP00000316454.4:n.444+9G>A
NM_018026.3:c.444+9G>A	NP_060496.2:n.444+9G>A
ENST00000320580.8:c.444+9G>A	ENSP00000316454.4:n.444+9G>A
ENST00000527224.1:n.568+9G>A
ENST00000527380.1:c.150+9G>A	ENSP00000432639.1:n.150+9G>A
ENST00000533756.5:c.135+9G>A	ENSP00000437150.1:n.135+9G>A
XM_011545162.1:c.123+9G>A	XP_011543464.1:n.123+9G>A
XM_011545163.1:c.114+9G>A	XP_011543465.1:n.114+9G>A
XM_011545164.1:c.105+9G>A	XP_011543466.1:n.105+9G>A
XM_011545164.2:c.105+9G>A	XP_011543466.1:n.105+9G>A
XR_001747924.1:n.655+9G>A