Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA1818375315

Gene: CASC8 HGNC NCBI

Linked Data

dbSNP Id: rs1815899919

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.127473790A>G , CM000670.2:g.127473790A>G	GRCh38
NC_000008.10:g.128486035A>G , CM000670.1:g.128486035A>G	GRCh37
NC_000008.9:g.128555217A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
NR_024393.1:n.1041+5293T>C
NR_117100.1:n.1041+5293T>C

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