Canonical Allele Identifier: CA6116289

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66211162A>G , CM000673.2:g.66211162A>G	GRCh38
NC_000011.9:g.65978633A>G , CM000673.1:g.65978633A>G	GRCh37
NC_000011.8:g.65735209A>G	NCBI36
NG_033900.1:g.145810A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.563A>G MANE Select	NP_060496.2:p.Asn188Ser
ENST00000320580.9:c.563A>G MANE Select	ENSP00000316454.4:p.Asn188Ser
NM_018026.3:c.563A>G	NP_060496.2:p.Asn188Ser
ENST00000320580.8:c.563A>G	ENSP00000316454.4:p.Asn188Ser
ENST00000527224.1:n.687A>G
ENST00000527380.1:c.269A>G	ENSP00000432639.1:p.Asn90Ser
ENST00000533756.5:c.254A>G	ENSP00000437150.1:p.Asn85Ser
XM_011545162.1:c.242A>G	XP_011543464.1:p.Asn81Ser
XM_011545163.1:c.233A>G	XP_011543465.1:p.Asn78Ser
XM_011545164.1:c.224A>G	XP_011543466.1:p.Asn75Ser
XM_011545164.2:c.224A>G	XP_011543466.1:p.Asn75Ser
XR_001747924.1:n.774A>G