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: CA823896739

Gene: BAG6 HGNC NCBI

Linked Data

dbSNP Id: rs574196079

gnomAD v3: 6-31658212-C-G

gnomAD v4: 6-31658212-C-G

MyVariant Identifiers: chr6:g.31625989C>G (hg19) chr6:g.31658212C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31658212C>G , CM000668.2:g.31658212C>G	GRCh38
NC_000006.11:g.31625989C>G , CM000668.1:g.31625989C>G	GRCh37
NC_000006.10:g.31733968C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XM_011514895.1:c.-14+2109G>C	XP_011513197.1:n.-14+2109G>C
XM_017011279.2:c.-14+2109G>C	XP_016866768.1:n.-14+2109G>C

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