Canonical Allele Identifier: CA381381450

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66241447G>C , CM000673.2:g.66241447G>C	GRCh38
NC_000011.9:g.66008918G>C , CM000673.1:g.66008918G>C	GRCh37
NC_000011.8:g.65765494G>C	NCBI36
NG_033900.1:g.176095G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.2450G>C MANE Select	NP_060496.2:p.Gly817Ala
ENST00000320580.9:c.2450G>C MANE Select	ENSP00000316454.4:p.Gly817Ala
NM_018026.3:c.2450G>C	NP_060496.2:p.Gly817Ala
ENST00000320580.8:c.2450G>C	ENSP00000316454.4:p.Gly817Ala
ENST00000524815.5:c.-167G>C	ENSP00000433991.1:n.-167G>C
ENST00000525798.1:n.488G>C
ENST00000529757.5:c.1058G>C	ENSP00000432858.1:p.Gly353Ala
ENST00000531597.1:c.-167G>C	ENSP00000434012.1:n.-167G>C
XM_011545162.1:c.2129G>C	XP_011543464.1:p.Gly710Ala
XM_011545163.1:c.2120G>C	XP_011543465.1:p.Gly707Ala
XM_011545164.1:c.2111G>C	XP_011543466.1:p.Gly704Ala
XM_011545164.2:c.2111G>C	XP_011543466.1:p.Gly704Ala