Canonical Allele Identifier: CA955200492
Gene: COG6 HGNC NCBI

Linked Data

dbSNP Id: rs1881470592
gnomAD v3: 13-39776599-C-G
gnomAD v4: 13-39776599-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39776599C>G , CM000675.2:g.39776599C>G GRCh38
NC_000013.10:g.40350736C>G , CM000675.1:g.40350736C>G GRCh37
NC_000013.9:g.39248736C>G NCBI36
NG_028352.1:g.125973C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000416691.5:c.1827-11736C>G ENSP00000403733.1:n.1827-11736C>G
NM_001145079.1:c.1827-11736C>G NP_001138551.1:n.1827-11736C>G
NM_001145079.2:c.1827-11736C>G NP_001138551.1:n.1827-11736C>G
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