Canonical Allele Identifier: CA6116898

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66241524G>A , CM000673.2:g.66241524G>A	GRCh38
NC_000011.9:g.66008995G>A , CM000673.1:g.66008995G>A	GRCh37
NC_000011.8:g.65765571G>A	NCBI36
NG_033900.1:g.176172G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.2527G>A MANE Select	ENSP00000316454.4:p.Ala843Thr
ENST00000320580.8:c.2527G>A	ENSP00000316454.4:p.Ala843Thr
ENST00000524815.5:c.-90G>A	ENSP00000433991.1:n.-90G>A
ENST00000525798.1:n.565G>A
ENST00000529677.1:c.77G>A
ENST00000529757.5:c.1135G>A	ENSP00000432858.1:p.Ala379Thr
ENST00000531597.1:c.-90G>A	ENSP00000434012.1:n.-90G>A
NM_018026.3:c.2527G>A	NP_060496.2:p.Ala843Thr
XM_011545162.1:c.2206G>A	XP_011543464.1:p.Ala736Thr
XM_011545163.1:c.2197G>A	XP_011543465.1:p.Ala733Thr
XM_011545164.1:c.2188G>A	XP_011543466.1:p.Ala730Thr
XM_011545164.2:c.2188G>A	XP_011543466.1:p.Ala730Thr
NM_018026.4:c.2527G>A MANE Select	NP_060496.2:p.Ala843Thr