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Canonical Allele Identifier:
CA337397674
Gene: BCORP1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrY:g.19512492T>C
GRCh37
chrY:g.21674378T>C
Linked Data - Sequence & Population
gnomAD v3:
Y:19512492 T / C
gnomAD v4:
chrY-19512492-T-C
Joint Max Group AF
0.02783366 (AFR)
Genomes Max Group AF
0.02783366 (AFR)
Linked Data - NCBI & NCI
dbSNP:
112102527
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19512492T>C , CM000686.2:g.19512492T>C
GRCh38
NC_000024.9:g.21674378T>C , CM000686.1:g.21674378T>C
GRCh37
NC_000024.8:g.20133766T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650676.1:n.112-32198A>G
Search 100 bp 5'
Search 100 bp 3'