ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA337533083
Gene:
Linked Data - Variant Effect Evidence
MyVariant.info:
GRCh38
chrY:g.21318084A>C
GRCh37
chrY:g.23479970A>C
Linked Data - NCBI & NCI
dbSNP:
111645663
2124007716
2124007720
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.21318084A>C , CM000686.2:g.21318084A>C
GRCh38
NC_000024.9:g.23479970A>C , CM000686.1:g.23479970A>C
GRCh37
NC_000024.8:g.21889358A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000437359.1:n.752+188A>C
Search 100 bp 5'
Search 100 bp 3'