Canonical Allele Identifier: CA6116911

Gene: PACS1

Linked Data

• ClinVar Variation Id: 2165950
• ClinVar RCV Id: RCV003084631 ; RCV003953884
• dbSNP Id: rs767222489
• ExAC: 11:66009096 T / C
• gnomAD v2: 11-66009096-T-C
• gnomAD v4: 11-66241625-T-C
• MyVariant Identifiers: chr11:g.66009096T>C (hg19) ; chr11:g.66241625T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66241625T>C , CM000673.2:g.66241625T>C	GRCh38
NC_000011.9:g.66009096T>C , CM000673.1:g.66009096T>C	GRCh37
NC_000011.8:g.65765672T>C	NCBI36
NG_033900.1:g.176273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.2628T>C MANE Select	ENSP00000316454.4:p.Thr876=
ENST00000320580.8:c.2628T>C	ENSP00000316454.4:p.Thr876=
ENST00000524815.5:c.12T>C	ENSP00000433991.1:p.Thr4=
ENST00000529677.1:c.178T>C
ENST00000529757.5:c.1236T>C	ENSP00000432858.1:p.Thr412=
ENST00000531597.1:c.12T>C	ENSP00000434012.1:p.Thr4=
NM_018026.3:c.2628T>C	NP_060496.2:p.Thr876=
XM_011545162.1:c.2307T>C	XP_011543464.1:p.Thr769=
XM_011545163.1:c.2298T>C	XP_011543465.1:p.Thr766=
XM_011545164.1:c.2289T>C	XP_011543466.1:p.Thr763=
XM_011545164.2:c.2289T>C	XP_011543466.1:p.Thr763=
NM_018026.4:c.2628T>C MANE Select	NP_060496.2:p.Thr876=