Canonical Allele Identifier: CA2086122666
Gene: COG6 HGNC NCBI

Linked Data

dbSNP Id: rs1881472596
gnomAD v3: 13-39776658-C-A
gnomAD v4: 13-39776658-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39776658C>A , CM000675.2:g.39776658C>A GRCh38
NC_000013.10:g.40350795C>A , CM000675.1:g.40350795C>A GRCh37
NC_000013.9:g.39248795C>A NCBI36
NG_028352.1:g.126032C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000416691.5:c.1827-11677C>A ENSP00000403733.1:n.1827-11677C>A
NM_001145079.1:c.1827-11677C>A NP_001138551.1:n.1827-11677C>A
NM_001145079.2:c.1827-11677C>A NP_001138551.1:n.1827-11677C>A
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