Canonical Allele Identifier: CA4903525
Gene: PSCA HGNC NCBI
JRK HGNC NCBI
COSMIC:
COSN23017178 (not active)
MyVariant.info:
GRCh38 chr8:g.142681514G>A
GRCh37 chr8:g.143762932G>A
gnomAD v2:
8:143762932 G / A
gnomAD v3:
8:142681514 G / A
gnomAD v4:
chr8-142681514-G-A
Joint Max Group AF 0.53624284 (AMR)
Genomes Max Group AF 0.504311 (AMR)
Exomes Max Group AF 0.54720918 (AMR)
dbSNP:
2976392
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142681514G>A , CM000670.2:g.142681514G>A GRCh38
NC_000008.10:g.143762932G>A , CM000670.1:g.143762932G>A GRCh37
NC_000008.9:g.143759934G>A NCBI36
NG_011722.2:g.6058G>A
NG_011722.3:g.16207G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301258.5:c.133+80G>A (PSCA) MANE Select ENSP00000301258.4:n.133+80G>A
ENST00000301258.4:c.133+80G>A (PSCA) ENSP00000301258.4:n.133+80G>A
ENST00000505305.1:n.449G>A (PSCA)
ENST00000510969.1:n.356+80G>A (PSCA)
ENST00000513264.1:c.*48G>A (PSCA) ENSP00000426508.1:n.*48G>A
ENST00000585503.1:n.264+191C>T (JRK)
ENST00000587499.1:n.100+191C>T (JRK)
ENST00000587883.5:n.264+191C>T (JRK)
ENST00000591180.5:n.130+191C>T (JRK)
ENST00000591357.5:n.264+191C>T (JRK)
NM_005672.4:c.133+80G>A (PSCA) NP_005663.2:n.133+80G>A
NR_033343.1:n.369+80G>A (PSCA)
NM_005672.5:c.133+80G>A (PSCA) MANE Select NP_005663.2:n.133+80G>A
NR_033343.2:n.380+80G>A (PSCA)
Search 100 bp 5'
Search 100 bp 3'