Canonical Allele Identifier: CA119847
Gene: PPP1R3A HGNC NCBI
COSMIC:
COSM4416564 (not active)
COSM4416565 (not active)
MyVariant.info:
GRCh38 chr7:g.113878379C>A
GRCh37 chr7:g.113518434C>A
Revel Score:
ENST00000284601 (MANE Select) 0.081
gnomAD v2:
7:113518434 C / A
gnomAD v3:
7:113878379 C / A
gnomAD v4:
chr7-113878379-C-A
Joint Max Group AF 0.67954339 (EAS)
Genomes Max Group AF 0.65192651 (EAS)
Exomes Max Group AF 0.68111218 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.113878379C>A , CM000669.2:g.113878379C>A GRCh38
NC_000007.13:g.113518434C>A , CM000669.1:g.113518434C>A GRCh37
NC_000007.12:g.113305670C>A NCBI36
NG_012116.1:g.45649G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000284601.4:c.2713G>T MANE Select ENSP00000284601.3:p.Asp905Tyr
ENST00000284601.3:c.2713G>T ENSP00000284601.3:p.Asp905Tyr
NM_002711.3:c.2713G>T NP_002702.2:p.Asp905Tyr
XM_005250473.2:c.2110G>T XP_005250530.1:p.Asp704Tyr
XM_005250473.3:c.2110G>T XP_005250530.1:p.Asp704Tyr
NM_002711.4:c.2713G>T MANE Select NP_002702.2:p.Asp905Tyr
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