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: CA136301913

Gene: CASC15 HGNC NCBI
NBAT1 HGNC NCBI

Linked Data

dbSNP Id: rs960576812

gnomAD v3: 6-22139712-T-C

gnomAD v4: 6-22139712-T-C

MyVariant Identifiers: chr6:g.22139941T>C (hg19) chr6:g.22139712T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.22139712T>C , CM000668.2:g.22139712T>C	GRCh38
NC_000006.11:g.22139941T>C , CM000668.1:g.22139941T>C	GRCh37
NC_000006.10:g.22247920T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_015410.1:n.1391+28792T>C (CASC15)
NR_034143.1:n.228-3043A>G (NBAT1)
NR_015410.2:n.1422+28792T>C (CASC15)

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