Canonical Allele Identifier: CA6116759

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66234225C>T , CM000673.2:g.66234225C>T	GRCh38
NC_000011.9:g.66001696C>T , CM000673.1:g.66001696C>T	GRCh37
NC_000011.8:g.65758272C>T	NCBI36
NG_033900.1:g.168873C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.2087C>T MANE Select	NP_060496.2:p.Ser696Leu
ENST00000320580.9:c.2087C>T MANE Select	ENSP00000316454.4:p.Ser696Leu
NM_018026.3:c.2087C>T	NP_060496.2:p.Ser696Leu
ENST00000320580.8:c.2087C>T	ENSP00000316454.4:p.Ser696Leu
ENST00000528935.1:c.230C>T	ENSP00000437052.1:p.Ser77Leu
ENST00000529757.5:c.695C>T	ENSP00000432858.1:p.Ser232Leu
ENST00000529795.1:n.214C>T
ENST00000676419.1:n.124C>T
XM_011545162.1:c.1766C>T	XP_011543464.1:p.Ser589Leu
XM_011545163.1:c.1757C>T	XP_011543465.1:p.Ser586Leu
XM_011545164.1:c.1748C>T	XP_011543466.1:p.Ser583Leu
XM_011545164.2:c.1748C>T	XP_011543466.1:p.Ser583Leu