Canonical Allele Identifier: CA153527810
Gene: RPA3 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.7637051A>C
GRCh37 chr7:g.7676682A>C
Revel Score:
ENST00000223129 (MANE Select) 0.230
ENST00000406109 0.230
ENST00000396682 0.230
ENST00000401447 0.230
gnomAD v4:
chr7-7637051-A-C
Joint Max Group AF 0.00000183 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar RCV:
RCV004317118
ClinVar Variation:
2546518
dbSNP:
764940314
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.7637051A>C , CM000669.2:g.7637051A>C GRCh38
NC_000007.13:g.7676682A>C , CM000669.1:g.7676682A>C GRCh37
NC_000007.12:g.7643207A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000223129.8:c.315T>G MANE Select ENSP00000223129.4:p.Ile105Met
ENST00000396682.6:c.315T>G ENSP00000379914.2:p.Ile105Met
ENST00000401447.1:c.198T>G ENSP00000385383.1:p.Ile66Met
ENST00000406109.5:c.198T>G ENSP00000384652.1:p.Ile66Met
ENST00000483031.1:n.575T>G
NM_002947.3:c.315T>G NP_002938.1:p.Ile105Met
NM_002947.4:c.315T>G NP_002938.1:p.Ile105Met
NM_002947.5:c.315T>G MANE Select NP_002938.1:p.Ile105Met
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