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: CA823619792

Gene: ZKSCAN8P1 HGNC NCBI

Linked Data

dbSNP Id: rs1258042566

gnomAD v4: 6-28161925-G-A

MyVariant Identifiers: chr6:g.28129703G>A (hg19) chr6:g.28161925G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.28161925G>A , CM000668.2:g.28161925G>A	GRCh38
NC_000006.11:g.28129703G>A , CM000668.1:g.28129703G>A	GRCh37
NC_000006.10:g.28237682G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000562227.2:n.53+104G>A
ENST00000440790.6:n.41+104G>A
ENST00000570126.1:n.30+104G>A
NR_103448.1:n.61+104G>A

Search 100 bp 5'

Search 100 bp 3'