ClinGen Allele Registry
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Canonical Allele Identifier:
CA337397254
Gene: BCORP1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrY:g.19503553A>C
GRCh37
chrY:g.21665439A>C
Linked Data - Sequence & Population
gnomAD v3:
Y:19503553 A / C
gnomAD v4:
chrY-19503553-A-C
Joint Max Group AF
0.00750712 (AFR)
Genomes Max Group AF
0.00750712 (AFR)
Linked Data - NCBI & NCI
dbSNP:
111239917
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.19503553A>C , CM000686.2:g.19503553A>C
GRCh38
NC_000024.9:g.21665439A>C , CM000686.1:g.21665439A>C
GRCh37
NC_000024.8:g.20124827A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000650676.1:n.112-23259T>G
Search 100 bp 5'
Search 100 bp 3'