Canonical Allele Identifier: CA2798905439

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39776692T>C , CM000675.2:g.39776692T>C	GRCh38
NC_000013.10:g.40350829T>C , CM000675.1:g.40350829T>C	GRCh37
NC_000013.9:g.39248829T>C	NCBI36
NG_028352.1:g.126066T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000416691.5:c.1827-11643T>C	ENSP00000403733.1:n.1827-11643T>C
NM_001145079.1:c.1827-11643T>C	NP_001138551.1:n.1827-11643T>C
NM_001145079.2:c.1827-11643T>C	NP_001138551.1:n.1827-11643T>C