Canonical Allele Identifier: CA6116316

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66216142C>T , CM000673.2:g.66216142C>T	GRCh38
NC_000011.9:g.65983613C>T , CM000673.1:g.65983613C>T	GRCh37
NC_000011.8:g.65740189C>T	NCBI36
NG_033900.1:g.150790C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.684C>T MANE Select	NP_060496.2:p.Gly228=
ENST00000320580.9:c.684C>T MANE Select	ENSP00000316454.4:p.Gly228=
NM_018026.3:c.684C>T	NP_060496.2:p.Gly228=
ENST00000320580.8:c.684C>T	ENSP00000316454.4:p.Gly228=
ENST00000527224.1:n.808C>T
ENST00000527380.1:c.390C>T	ENSP00000432639.1:p.Gly130=
XM_011545162.1:c.363C>T	XP_011543464.1:p.Gly121=
XM_011545163.1:c.354C>T	XP_011543465.1:p.Gly118=
XM_011545164.1:c.345C>T	XP_011543466.1:p.Gly115=
XM_011545164.2:c.345C>T	XP_011543466.1:p.Gly115=
XR_001747924.1:n.895C>T