Canonical Allele Identifier: CA4903458
Gene: PSCA HGNC NCBI
JRK HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.142680513C>T
GRCh37 chr8:g.143761931C>T
Revel Score:
ENST00000301258 (MANE Select) 0.091
ENST00000513264 0.091
gnomAD v2:
8:143761931 C / T
gnomAD v3:
8:142680513 C / T
gnomAD v4:
chr8-142680513-C-T
Joint Max Group AF 0.5355876 (AMR)
Genomes Max Group AF 0.50410153 (AMR)
Exomes Max Group AF 0.54615176 (AMR)
ClinVar Allele:
692356
ClinVar RCV:
RCV000874560
ClinVar Variation:
704509
dbSNP:
2294008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142680513C>T , CM000670.2:g.142680513C>T GRCh38
NC_000008.10:g.143761931C>T , CM000670.1:g.143761931C>T GRCh37
NC_000008.9:g.143758933C>T NCBI36
NG_011722.2:g.5057C>T
NG_011722.3:g.15206C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301258.5:c.-26C>T (PSCA) MANE Select ENSP00000301258.4:n.-26C>T
ENST00000301258.4:c.-26C>T (PSCA) ENSP00000301258.4:n.-26C>T
ENST00000505305.1:n.262-814C>T (PSCA)
ENST00000510969.1:n.249-814C>T (PSCA)
ENST00000513264.1:c.-26C>T (PSCA) ENSP00000426508.1:n.-26C>T
ENST00000585503.1:n.636G>A (JRK)
ENST00000587499.1:n.725G>A (JRK)
ENST00000587883.5:n.264+1192G>A (JRK)
ENST00000591180.5:n.130+1192G>A (JRK)
ENST00000591357.5:n.264+1192G>A (JRK)
NM_005672.4:c.-26C>T (PSCA) NP_005663.2:n.-26C>T
NR_033343.1:n.262-814C>T (PSCA)
NM_005672.5:c.-26C>T (PSCA) MANE Select NP_005663.2:n.-26C>T
NR_033343.2:n.273-814C>T (PSCA)
Search 100 bp 5'
Search 100 bp 3'