Canonical Allele Identifier: CA955200512
Gene: COG6 HGNC NCBI

Linked Data

dbSNP Id: rs1881471609
gnomAD v3: 13-39776630-A-C
gnomAD v4: 13-39776630-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39776630A>C , CM000675.2:g.39776630A>C GRCh38
NC_000013.10:g.40350767A>C , CM000675.1:g.40350767A>C GRCh37
NC_000013.9:g.39248767A>C NCBI36
NG_028352.1:g.126004A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000416691.5:c.1827-11705A>C ENSP00000403733.1:n.1827-11705A>C
NM_001145079.1:c.1827-11705A>C NP_001138551.1:n.1827-11705A>C
NM_001145079.2:c.1827-11705A>C NP_001138551.1:n.1827-11705A>C
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