Canonical Allele Identifier: CA605673146
Gene: RPSAP52 HGNC NCBI

Linked Data

dbSNP Id: rs1531343
gnomAD v2: 12-66174894-G-T
gnomAD v3: 12-65781114-G-T
gnomAD v4: 12-65781114-G-T
MyVariant Identifiers: chr12:g.66174894G>T (hg19) chr12:g.65781114G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.65781114G>T , CM000674.2:g.65781114G>T GRCh38
NC_000012.11:g.66174894G>T , CM000674.1:g.66174894G>T GRCh37
NC_000012.10:g.64461161G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000489520.2:n.133-22083C>A
NR_026825.2:n.133-22083C>A
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