Canonical Allele Identifier: CA248884414

Gene: COG6

Linked Data

• dbSNP Id: rs939406188
• gnomAD v3: 13-39776763-C-T
• gnomAD v4: 13-39776763-C-T
• MyVariant Identifiers: chr13:g.40350900C>T (hg19) ; chr13:g.39776763C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39776763C>T , CM000675.2:g.39776763C>T	GRCh38
NC_000013.10:g.40350900C>T , CM000675.1:g.40350900C>T	GRCh37
NC_000013.9:g.39248900C>T	NCBI36
NG_028352.1:g.126137C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416691.5:c.1827-11572C>T	ENSP00000403733.1:n.1827-11572C>T
NM_001145079.1:c.1827-11572C>T	NP_001138551.1:n.1827-11572C>T
NM_001145079.2:c.1827-11572C>T	NP_001138551.1:n.1827-11572C>T