Canonical Allele Identifier: CA381342519

Gene: PACS1

Linked Data

• MyVariant Identifiers: chr11:g.65978683A>T (hg19) ; chr11:g.66211212A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66211212A>T , CM000673.2:g.66211212A>T	GRCh38
NC_000011.9:g.65978683A>T , CM000673.1:g.65978683A>T	GRCh37
NC_000011.8:g.65735259A>T	NCBI36
NG_033900.1:g.145860A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.613A>T MANE Select	ENSP00000316454.4:p.Ile205Phe
ENST00000320580.8:c.613A>T	ENSP00000316454.4:p.Ile205Phe
ENST00000527224.1:n.737A>T
ENST00000527380.1:c.319A>T	ENSP00000432639.1:p.Ile107Phe
ENST00000533756.5:c.304A>T	ENSP00000437150.1:p.Ile102Phe
NM_018026.3:c.613A>T	NP_060496.2:p.Ile205Phe
XM_011545162.1:c.292A>T	XP_011543464.1:p.Ile98Phe
XM_011545163.1:c.283A>T	XP_011543465.1:p.Ile95Phe
XM_011545164.1:c.274A>T	XP_011543466.1:p.Ile92Phe
XM_011545164.2:c.274A>T	XP_011543466.1:p.Ile92Phe
XR_001747924.1:n.824A>T
NM_018026.4:c.613A>T MANE Select	NP_060496.2:p.Ile205Phe