Canonical Allele Identifier: CA207819
Gene: PACS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 211812
ClinVar RCV Id: RCV000193972 RCV000919151
dbSNP Id: rs778693310
ExAC: 11:65838092 G / T
gnomAD v2: 11-65838092-G-T
gnomAD v3: 11-66070621-G-T
gnomAD v4: 11-66070621-G-T
MyVariant Identifiers: chr11:g.65838092G>T (hg19) chr11:g.66070621G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66070621G>T , CM000673.2:g.66070621G>T GRCh38
NC_000011.9:g.65838092G>T , CM000673.1:g.65838092G>T GRCh37
NC_000011.8:g.65594668G>T NCBI36
NG_033900.1:g.5269G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320580.9:c.135G>T MANE Select ENSP00000316454.4:p.Pro45=
ENST00000320580.8:c.135G>T ENSP00000316454.4:p.Pro45=
ENST00000527224.1:n.259G>T
NM_018026.3:c.135G>T NP_060496.2:p.Pro45=
XR_001747924.1:n.346G>T
NM_018026.4:c.135G>T MANE Select NP_060496.2:p.Pro45=
Search 100 bp 5'
Search 100 bp 3'