Canonical Allele Identifier: CA609633468
Gene: COG6 HGNC NCBI

Linked Data

dbSNP Id: rs1371287877
gnomAD v2: 13-40350875-G-A
gnomAD v3: 13-39776738-G-A
gnomAD v4: 13-39776738-G-A
MyVariant Identifiers: chr13:g.40350875G>A (hg19) chr13:g.39776738G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39776738G>A , CM000675.2:g.39776738G>A GRCh38
NC_000013.10:g.40350875G>A , CM000675.1:g.40350875G>A GRCh37
NC_000013.9:g.39248875G>A NCBI36
NG_028352.1:g.126112G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000416691.5:c.1827-11597G>A ENSP00000403733.1:n.1827-11597G>A
NM_001145079.1:c.1827-11597G>A NP_001138551.1:n.1827-11597G>A
NM_001145079.2:c.1827-11597G>A NP_001138551.1:n.1827-11597G>A
Search 100 bp 5'
Search 100 bp 3'