Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA136302047

Gene: CASC15 HGNC NCBI
NBAT1 HGNC NCBI

Linked Data

dbSNP Id: rs534912381

gnomAD v3: 6-22139840-C-T

gnomAD v4: 6-22139840-C-T

MyVariant Identifiers: chr6:g.22140069C>T (hg19) chr6:g.22139840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.22139840C>T , CM000668.2:g.22139840C>T	GRCh38
NC_000006.11:g.22140069C>T , CM000668.1:g.22140069C>T	GRCh37
NC_000006.10:g.22248048C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_015410.1:n.1391+28920C>T (CASC15)
NR_034143.1:n.228-3171G>A (NBAT1)
NR_015410.2:n.1422+28920C>T (CASC15)

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