Canonical Allele Identifier: CA248884416
Gene: COG6 HGNC NCBI

Linked Data

dbSNP Id: rs557091888
gnomAD v2: 13-40350913-G-A
gnomAD v3: 13-39776776-G-A
gnomAD v4: 13-39776776-G-A
MyVariant Identifiers: chr13:g.40350913G>A (hg19) chr13:g.39776776G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39776776G>A , CM000675.2:g.39776776G>A GRCh38
NC_000013.10:g.40350913G>A , CM000675.1:g.40350913G>A GRCh37
NC_000013.9:g.39248913G>A NCBI36
NG_028352.1:g.126150G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000416691.5:c.1827-11559G>A ENSP00000403733.1:n.1827-11559G>A
NM_001145079.1:c.1827-11559G>A NP_001138551.1:n.1827-11559G>A
NM_001145079.2:c.1827-11559G>A NP_001138551.1:n.1827-11559G>A
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