Canonical Allele Identifier: CA2086122651

Gene: COG6

Linked Data

• dbSNP Id: rs1881471283

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39776613T>C , CM000675.2:g.39776613T>C	GRCh38
NC_000013.10:g.40350750T>C , CM000675.1:g.40350750T>C	GRCh37
NC_000013.9:g.39248750T>C	NCBI36
NG_028352.1:g.125987T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000416691.5:c.1827-11722T>C	ENSP00000403733.1:n.1827-11722T>C
NM_001145079.1:c.1827-11722T>C	NP_001138551.1:n.1827-11722T>C
NM_001145079.2:c.1827-11722T>C	NP_001138551.1:n.1827-11722T>C