ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA131177562
Gene:
Linked Data
dbSNP Id:
rs953962719
gnomAD v2:
5-162083577-A-G
gnomAD v3:
5-162656571-A-G
gnomAD v4:
5-162656571-A-G
MyVariant Identifiers:
chr5:g.162083577A>G (hg19)
chr5:g.162656571A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.162656571A>G , CM000667.2:g.162656571A>G
GRCh38
NC_000005.9:g.162083577A>G , CM000667.1:g.162083577A>G
GRCh37
NC_000005.8:g.162016155A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_001742958.1:n.418+3531T>C
Search 100 bp 5'
Search 100 bp 3'