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: CA337593161

Gene: RFTN1P1 HGNC NCBI

Linked Data

dbSNP Id: rs775049419

gnomAD v3: Y-7702829-G-C

gnomAD v4: Y-7702829-G-C

MyVariant Identifiers: chrY:g.7570870G>C (hg19) chrY:g.7702829G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.7702829G>C , CM000686.2:g.7702829G>C	GRCh38
NC_000024.9:g.7570870G>C , CM000686.1:g.7570870G>C	GRCh37
NC_000024.8:g.7630870G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651261.1:n.677-1566C>G

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