Canonical Allele Identifier: CA6116479

Gene: PACS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66220690G>C , CM000673.2:g.66220690G>C	GRCh38
NC_000011.9:g.65988161G>C , CM000673.1:g.65988161G>C	GRCh37
NC_000011.8:g.65744737G>C	NCBI36
NG_033900.1:g.155338G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018026.4:c.1098G>C MANE Select	NP_060496.2:p.Leu366Phe
ENST00000320580.9:c.1098G>C MANE Select	ENSP00000316454.4:p.Leu366Phe
NM_018026.3:c.1098G>C	NP_060496.2:p.Leu366Phe
ENST00000320580.8:c.1098G>C	ENSP00000316454.4:p.Leu366Phe
ENST00000524784.1:c.382G>C	ENSP00000435037.1:n.382G>C
ENST00000533811.1:n.403G>C
ENST00000534273.1:n.21G>C
XM_011545162.1:c.777G>C	XP_011543464.1:p.Leu259Phe
XM_011545163.1:c.768G>C	XP_011543465.1:p.Leu256Phe
XM_011545164.1:c.759G>C	XP_011543466.1:p.Leu253Phe
XM_011545164.2:c.759G>C	XP_011543466.1:p.Leu253Phe
XR_001747924.1:n.1309G>C