Canonical Allele Identifier: CA13858016
Gene: COG6 HGNC NCBI

Linked Data

dbSNP Id: rs7993214
gnomAD v2: 13-40350912-T-C
gnomAD v3: 13-39776775-T-C
gnomAD v4: 13-39776775-T-C
MyVariant Identifiers: chr13:g.40350912T>C (hg19) chr13:g.39776775T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39776775T>C , CM000675.2:g.39776775T>C GRCh38
NC_000013.10:g.40350912T>C , CM000675.1:g.40350912T>C GRCh37
NC_000013.9:g.39248912T>C NCBI36
NG_028352.1:g.126149T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000416691.5:c.1827-11560T>C ENSP00000403733.1:n.1827-11560T>C
NM_001145079.1:c.1827-11560T>C NP_001138551.1:n.1827-11560T>C
NM_001145079.2:c.1827-11560T>C NP_001138551.1:n.1827-11560T>C
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