Canonical Allele Identifier: CA6116871

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66239261G>A , CM000673.2:g.66239261G>A	GRCh38
NC_000011.9:g.66006732G>A , CM000673.1:g.66006732G>A	GRCh37
NC_000011.8:g.65763308G>A	NCBI36
NG_033900.1:g.173909G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.2413G>A MANE Select	NP_060496.2:p.Ala805Thr
ENST00000320580.9:c.2413G>A MANE Select	ENSP00000316454.4:p.Ala805Thr
NM_018026.3:c.2413G>A	NP_060496.2:p.Ala805Thr
ENST00000320580.8:c.2413G>A	ENSP00000316454.4:p.Ala805Thr
ENST00000525798.1:n.451G>A
ENST00000529757.5:c.1021G>A	ENSP00000432858.1:p.Ala341Thr
ENST00000676419.1:n.450G>A
XM_011545162.1:c.2092G>A	XP_011543464.1:p.Ala698Thr
XM_011545163.1:c.2083G>A	XP_011543465.1:p.Ala695Thr
XM_011545164.1:c.2074G>A	XP_011543466.1:p.Ala692Thr
XM_011545164.2:c.2074G>A	XP_011543466.1:p.Ala692Thr