Canonical Allele Identifier: CA6958428

Gene: COG6

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39682205C>T , CM000675.2:g.39682205C>T	GRCh38
NC_000013.10:g.40256342C>T , CM000675.1:g.40256342C>T	GRCh37
NC_000013.9:g.39154342C>T	NCBI36
NG_028352.1:g.31579C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455146.8:c.729C>T MANE Select	ENSP00000397441.2:p.Asp243=
ENST00000356576.8:c.*566C>T	ENSP00000348983.4:n.*566C>T
ENST00000416691.5:c.729C>T	ENSP00000403733.1:p.Asp243=
ENST00000455146.7:c.729C>T	ENSP00000397441.2:p.Asp243=
ENST00000465775.1:n.485C>T
ENST00000536488.5:c.461C>T
ENST00000537156.1:n.380C>T
NM_001145079.1:c.729C>T	NP_001138551.1:p.Asp243=
NM_020751.2:c.729C>T	NP_065802.1:p.Asp243=
NR_026745.1:n.894C>T
XM_011535168.1:c.729C>T	XP_011533470.1:p.Asp243=
XM_011535169.1:c.573C>T	XP_011533471.1:p.Asp191=
XM_011535170.1:c.573C>T	XP_011533472.1:p.Asp191=
NM_020751.3:c.729C>T MANE Select	NP_065802.1:p.Asp243=
NM_001145079.2:c.729C>T	NP_001138551.1:p.Asp243=