Canonical Allele Identifier: CA698012286
Gene: COG6 HGNC NCBI

Linked Data

dbSNP Id: rs7993214
MyVariant Identifiers: chr13:g.40350912T>G (hg19) chr13:g.39776775T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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