Canonical Allele Identifier: CA381381988

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66241491G>C , CM000673.2:g.66241491G>C	GRCh38
NC_000011.9:g.66008962G>C , CM000673.1:g.66008962G>C	GRCh37
NC_000011.8:g.65765538G>C	NCBI36
NG_033900.1:g.176139G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.2494G>C MANE Select	NP_060496.2:p.Gly832Arg
ENST00000320580.9:c.2494G>C MANE Select	ENSP00000316454.4:p.Gly832Arg
NM_018026.3:c.2494G>C	NP_060496.2:p.Gly832Arg
ENST00000320580.8:c.2494G>C	ENSP00000316454.4:p.Gly832Arg
ENST00000524815.5:c.-123G>C	ENSP00000433991.1:n.-123G>C
ENST00000525798.1:n.532G>C
ENST00000529677.1:c.44G>C
ENST00000529757.5:c.1102G>C	ENSP00000432858.1:p.Gly368Arg
ENST00000531597.1:c.-123G>C	ENSP00000434012.1:n.-123G>C
XM_011545162.1:c.2173G>C	XP_011543464.1:p.Gly725Arg
XM_011545163.1:c.2164G>C	XP_011543465.1:p.Gly722Arg
XM_011545164.1:c.2155G>C	XP_011543466.1:p.Gly719Arg
XM_011545164.2:c.2155G>C	XP_011543466.1:p.Gly719Arg