ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA223621035
Gene: SLC22A8
HGNC
NCBI
Linked Data
dbSNP Id:
rs184996360
gnomAD v2:
11-62758741-T-C
gnomAD v3:
11-62991269-T-C
gnomAD v4:
11-62991269-T-C
MyVariant Identifiers:
chr11:g.62758741T>C (hg19)
chr11:g.62991269T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.62991269T>C , CM000673.2:g.62991269T>C
GRCh38
NC_000011.9:g.62758741T>C , CM000673.1:g.62758741T>C
GRCh37
NC_000011.8:g.62515317T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000539841.1:n.5463A>G
Search 100 bp 5'
Search 100 bp 3'