Canonical Allele Identifier: CA6958913
Gene: COG6 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.39751982T>A , CM000675.2:g.39751982T>A GRCh38
NC_000013.10:g.40326119T>A , CM000675.1:g.40326119T>A GRCh37
NC_000013.9:g.39224119T>A NCBI36
NG_028352.1:g.101356T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000455146.8:c.*889T>A MANE Select ENSP00000397441.2:n.*889T>A
ENST00000356576.8:c.*2700T>A ENSP00000348983.4:n.*2700T>A
ENST00000416691.5:c.1826+24434T>A ENSP00000403733.1:n.1826+24434T>A
ENST00000455146.7:c.*889T>A ENSP00000397441.2:n.*889T>A
NM_001145079.1:c.1826+24434T>A NP_001138551.1:n.1826+24434T>A
NM_020751.2:c.*889T>A NP_065802.1:n.*889T>A
NR_026745.1:n.3028T>A
XM_011535168.1:c.*889T>A XP_011533470.1:n.*889T>A
XM_011535169.1:c.*889T>A XP_011533471.1:n.*889T>A
XM_011535170.1:c.*889T>A XP_011533472.1:n.*889T>A
NM_020751.3:c.*889T>A MANE Select NP_065802.1:n.*889T>A
NM_001145079.2:c.1826+24434T>A NP_001138551.1:n.1826+24434T>A