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: CA562263251

Gene:

Linked Data

dbSNP Id: rs1412754959

gnomAD v2: 5-125338409-A-G

gnomAD v3: 5-126002716-A-G

gnomAD v4: 5-126002716-A-G

MyVariant Identifiers: chr5:g.125338409A>G (hg19) chr5:g.126002716A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.126002716A>G , CM000667.2:g.126002716A>G	GRCh38
NC_000005.9:g.125338409A>G , CM000667.1:g.125338409A>G	GRCh37
NC_000005.8:g.125366308A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_948737.1:n.565+3624T>C
XR_948738.1:n.497+5824T>C

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