Canonical Allele Identifier: CA381341051

Gene: PACS1

Linked Data

• gnomAD v4: 11-66211134-T-C
• MyVariant Identifiers: chr11:g.65978605T>C (hg19) ; chr11:g.66211134T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66211134T>C , CM000673.2:g.66211134T>C	GRCh38
NC_000011.9:g.65978605T>C , CM000673.1:g.65978605T>C	GRCh37
NC_000011.8:g.65735181T>C	NCBI36
NG_033900.1:g.145782T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.535T>C MANE Select	ENSP00000316454.4:p.Tyr179His
ENST00000320580.8:c.535T>C	ENSP00000316454.4:p.Tyr179His
ENST00000527224.1:n.659T>C
ENST00000527380.1:c.241T>C	ENSP00000432639.1:p.Tyr81His
ENST00000533756.5:c.226T>C	ENSP00000437150.1:p.Tyr76His
NM_018026.3:c.535T>C	NP_060496.2:p.Tyr179His
XM_011545162.1:c.214T>C	XP_011543464.1:p.Tyr72His
XM_011545163.1:c.205T>C	XP_011543465.1:p.Tyr69His
XM_011545164.1:c.196T>C	XP_011543466.1:p.Tyr66His
XM_011545164.2:c.196T>C	XP_011543466.1:p.Tyr66His
XR_001747924.1:n.746T>C
NM_018026.4:c.535T>C MANE Select	NP_060496.2:p.Tyr179His