Canonical Allele Identifier: CA6958170

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39655852C>T , CM000675.2:g.39655852C>T	GRCh38
NC_000013.10:g.40229989C>T , CM000675.1:g.40229989C>T	GRCh37
NC_000013.9:g.39127989C>T	NCBI36
NG_028352.1:g.5226C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020751.3:c.126C>T MANE Select	NP_065802.1:p.Ile42=
ENST00000455146.8:c.126C>T MANE Select	ENSP00000397441.2:p.Ile42=
NM_001145079.1:c.126C>T	NP_001138551.1:p.Ile42=
NM_001145079.2:c.126C>T	NP_001138551.1:p.Ile42=
NM_020751.2:c.126C>T	NP_065802.1:p.Ile42=
NR_026745.1:n.226C>T
ENST00000356576.8:c.126C>T	ENSP00000348983.4:p.Ile42=
ENST00000416691.5:c.126C>T	ENSP00000403733.1:p.Ile42=
ENST00000422759.6:n.191C>T
ENST00000455146.7:c.126C>T	ENSP00000397441.2:p.Ile42=
ENST00000542266.5:c.126C>T	ENSP00000441297.1:p.Ile42=
ENST00000543790.5:c.126C>T	ENSP00000440438.1:p.Ile42=
ENST00000543804.5:c.126C>T	ENSP00000440473.1:p.Ile42=
ENST00000630730.1:c.126C>T	ENSP00000486051.1:p.Ile42=
XM_011535168.1:c.126C>T	XP_011533470.1:p.Ile42=
XM_011535169.1:c.-96C>T	XP_011533471.1:n.-96C>T