ClinGen Allele Registry
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Canonical Allele Identifier:
CA337397656
Gene: BCORP1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrY:g.19512182C>T
GRCh37
chrY:g.21674068C>T
Linked Data - Sequence & Population
gnomAD v3:
Y:19512182 C / T
gnomAD v4:
chrY-19512182-C-T
Joint Max Group AF
0.09764165 (EAS)
Genomes Max Group AF
0.09764165 (EAS)
Linked Data - NCBI & NCI
dbSNP:
11096433
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19512182C>T , CM000686.2:g.19512182C>T
GRCh38
NC_000024.9:g.21674068C>T , CM000686.1:g.21674068C>T
GRCh37
NC_000024.8:g.20133456C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650676.1:n.112-31888G>A
Search 100 bp 5'
Search 100 bp 3'