Canonical Allele Identifier: CA381342556

Gene: PACS1

Linked Data

• MyVariant Identifiers: chr11:g.65978687T>A (hg19) ; chr11:g.66211216T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66211216T>A , CM000673.2:g.66211216T>A	GRCh38
NC_000011.9:g.65978687T>A , CM000673.1:g.65978687T>A	GRCh37
NC_000011.8:g.65735263T>A	NCBI36
NG_033900.1:g.145864T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.617T>A MANE Select	ENSP00000316454.4:p.Leu206Ter
ENST00000320580.8:c.617T>A	ENSP00000316454.4:p.Leu206Ter
ENST00000527224.1:n.741T>A
ENST00000527380.1:c.323T>A	ENSP00000432639.1:p.Leu108Ter
ENST00000533756.5:c.308T>A	ENSP00000437150.1:p.Leu103Ter
NM_018026.3:c.617T>A	NP_060496.2:p.Leu206Ter
XM_011545162.1:c.296T>A	XP_011543464.1:p.Leu99Ter
XM_011545163.1:c.287T>A	XP_011543465.1:p.Leu96Ter
XM_011545164.1:c.278T>A	XP_011543466.1:p.Leu93Ter
XM_011545164.2:c.278T>A	XP_011543466.1:p.Leu93Ter
XR_001747924.1:n.828T>A
NM_018026.4:c.617T>A MANE Select	NP_060496.2:p.Leu206Ter