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: CA955200551

Gene: COG6 HGNC NCBI

Linked Data

dbSNP Id: rs1881474964

gnomAD v3: 13-39776720-T-C

gnomAD v4: 13-39776720-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39776720T>C , CM000675.2:g.39776720T>C	GRCh38
NC_000013.10:g.40350857T>C , CM000675.1:g.40350857T>C	GRCh37
NC_000013.9:g.39248857T>C	NCBI36
NG_028352.1:g.126094T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000416691.5:c.1827-11615T>C	ENSP00000403733.1:n.1827-11615T>C
NM_001145079.1:c.1827-11615T>C	NP_001138551.1:n.1827-11615T>C
NM_001145079.2:c.1827-11615T>C	NP_001138551.1:n.1827-11615T>C

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