Canonical Allele Identifier: CA2086122643
Gene: COG6 HGNC NCBI

Linked Data

dbSNP Id: rs1469108812
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39776605C>T , CM000675.2:g.39776605C>T GRCh38
NC_000013.10:g.40350742C>T , CM000675.1:g.40350742C>T GRCh37
NC_000013.9:g.39248742C>T NCBI36
NG_028352.1:g.125979C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000416691.5:c.1827-11730C>T ENSP00000403733.1:n.1827-11730C>T
NM_001145079.1:c.1827-11730C>T NP_001138551.1:n.1827-11730C>T
NM_001145079.2:c.1827-11730C>T NP_001138551.1:n.1827-11730C>T
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