Canonical Allele Identifier: CA381342616

Gene: PACS1

Linked Data

• ClinVar Variation Id: 1706329
• ClinVar RCV Id: RCV002284859
• MyVariant Identifiers: chr11:g.65978690G>A (hg19) ; chr11:g.66211219G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66211219G>A , CM000673.2:g.66211219G>A	GRCh38
NC_000011.9:g.65978690G>A , CM000673.1:g.65978690G>A	GRCh37
NC_000011.8:g.65735266G>A	NCBI36
NG_033900.1:g.145867G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320580.9:c.620G>A MANE Select	ENSP00000316454.4:p.Gly207Asp
ENST00000320580.8:c.620G>A	ENSP00000316454.4:p.Gly207Asp
ENST00000527224.1:n.744G>A
ENST00000527380.1:c.326G>A	ENSP00000432639.1:p.Gly109Asp
ENST00000533756.5:c.311G>A	ENSP00000437150.1:p.Gly104Asp
NM_018026.3:c.620G>A	NP_060496.2:p.Gly207Asp
XM_011545162.1:c.299G>A	XP_011543464.1:p.Gly100Asp
XM_011545163.1:c.290G>A	XP_011543465.1:p.Gly97Asp
XM_011545164.1:c.281G>A	XP_011543466.1:p.Gly94Asp
XM_011545164.2:c.281G>A	XP_011543466.1:p.Gly94Asp
XR_001747924.1:n.831G>A
NM_018026.4:c.620G>A MANE Select	NP_060496.2:p.Gly207Asp