×
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.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA337586640
Gene: PRKY
HGNC
NCBI
Linked Data
dbSNP Id:
rs4988808
gnomAD v3:
Y-7350038-A-G
gnomAD v4:
Y-7350038-A-G
MyVariant Identifiers:
chrY:g.7218079A>G (hg19)
chrY:g.7350038A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000024.10:g.7350038A>G , CM000686.2:g.7350038A>G
GRCh38
NC_000024.9:g.7218079A>G , CM000686.1:g.7218079A>G
GRCh37
NC_000024.8:g.7278079A>G
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000472666.1:n.200-6097A>G
ENST00000528056.5:n.1061-6097A>G
ENST00000533551.5:n.720-6097A>G
NR_028062.1:n.1061-6097A>G
Search 100 bp 5'
Search 100 bp 3'