Canonical Allele Identifier: CA4903478
Gene: PSCA HGNC NCBI
JRK HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.142681306C>G
GRCh37 chr8:g.143762724C>G
gnomAD v2:
8:143762724 C / G
gnomAD v3:
8:142681306 C / G
gnomAD v4:
chr8-142681306-C-G
Joint Max Group AF 0.0014799 (EAS)
Genomes Max Group AF 0.00195016 (EAS)
Exomes Max Group AF 0.0012908 (EAS)
dbSNP:
2976391
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.142681306C>G , CM000670.2:g.142681306C>G GRCh38
NC_000008.10:g.143762724C>G , CM000670.1:g.143762724C>G GRCh37
NC_000008.9:g.143759726C>G NCBI36
NG_011722.2:g.5850C>G
NG_011722.3:g.15999C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301258.5:c.26-21C>G (PSCA) MANE Select ENSP00000301258.4:n.26-21C>G
ENST00000301258.4:c.26-21C>G (PSCA) ENSP00000301258.4:n.26-21C>G
ENST00000505305.1:n.262-21C>G (PSCA)
ENST00000510969.1:n.249-21C>G (PSCA)
ENST00000513264.1:c.26-21C>G (PSCA) ENSP00000426508.1:n.26-21C>G
ENST00000585503.1:n.264+399G>C (JRK)
ENST00000587499.1:n.101-169G>C (JRK)
ENST00000587883.5:n.264+399G>C (JRK)
ENST00000591180.5:n.130+399G>C (JRK)
ENST00000591357.5:n.264+399G>C (JRK)
NM_005672.4:c.26-21C>G (PSCA) NP_005663.2:n.26-21C>G
NR_033343.1:n.262-21C>G (PSCA)
NM_005672.5:c.26-21C>G (PSCA) MANE Select NP_005663.2:n.26-21C>G
NR_033343.2:n.273-21C>G (PSCA)
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