Canonical Allele Identifier: CA6116845

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66239144G>A , CM000673.2:g.66239144G>A	GRCh38
NC_000011.9:g.66006615G>A , CM000673.1:g.66006615G>A	GRCh37
NC_000011.8:g.65763191G>A	NCBI36
NG_033900.1:g.173792G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.2296G>A MANE Select	NP_060496.2:p.Asp766Asn
ENST00000320580.9:c.2296G>A MANE Select	ENSP00000316454.4:p.Asp766Asn
NM_018026.3:c.2296G>A	NP_060496.2:p.Asp766Asn
ENST00000320580.8:c.2296G>A	ENSP00000316454.4:p.Asp766Asn
ENST00000525798.1:n.334G>A
ENST00000529757.5:c.904G>A	ENSP00000432858.1:p.Asp302Asn
ENST00000676419.1:n.333G>A
XM_011545162.1:c.1975G>A	XP_011543464.1:p.Asp659Asn
XM_011545163.1:c.1966G>A	XP_011543465.1:p.Asp656Asn
XM_011545164.1:c.1957G>A	XP_011543466.1:p.Asp653Asn
XM_011545164.2:c.1957G>A	XP_011543466.1:p.Asp653Asn