ClinGen Allele Registry
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Canonical Allele Identifier:
CA47935423
Gene: ASB3
HGNC
NCBI
Linked Data
dbSNP Id:
rs13407662
gnomAD v2:
2-53782559-C-T
gnomAD v3:
2-53555422-C-T
gnomAD v4:
2-53555422-C-T
MyVariant Identifiers:
chr2:g.53782559C>T (hg19)
chr2:g.53555422C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.53555422C>T , CM000664.2:g.53555422C>T
GRCh38
NC_000002.11:g.53782559C>T , CM000664.1:g.53782559C>T
GRCh37
NC_000002.10:g.53636063C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000406053.5:c.1436-21538G>A
Search 100 bp 5'
Search 100 bp 3'