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: CA955200546

Gene: COG6 HGNC NCBI

Linked Data

dbSNP Id: rs1390710338

gnomAD v3: 13-39776706-C-A

gnomAD v4: 13-39776706-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39776706C>A , CM000675.2:g.39776706C>A	GRCh38
NC_000013.10:g.40350843C>A , CM000675.1:g.40350843C>A	GRCh37
NC_000013.9:g.39248843C>A	NCBI36
NG_028352.1:g.126080C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000416691.5:c.1827-11629C>A	ENSP00000403733.1:n.1827-11629C>A
NM_001145079.1:c.1827-11629C>A	NP_001138551.1:n.1827-11629C>A
NM_001145079.2:c.1827-11629C>A	NP_001138551.1:n.1827-11629C>A

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