Canonical Allele Identifier: CA6958723

Gene: COG6

Linked Data

• dbSNP Id: rs387906959
• ExAC: 13:40297531 G / C
• gnomAD v2: 13-40297531-G-C
• gnomAD v4: 13-39723394-G-C
• MyVariant Identifiers: chr13:g.40297531G>C (hg19) ; chr13:g.39723394G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.39723394G>C , CM000675.2:g.39723394G>C	GRCh38
NC_000013.10:g.40297531G>C , CM000675.1:g.40297531G>C	GRCh37
NC_000013.9:g.39195531G>C	NCBI36
NG_028352.1:g.72768G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000455146.8:c.1646G>C MANE Select	ENSP00000397441.2:p.Gly549Ala
ENST00000356576.8:c.*1483G>C	ENSP00000348983.4:n.*1483G>C
ENST00000416691.5:c.1646G>C	ENSP00000403733.1:p.Gly549Ala
ENST00000455146.7:c.1646G>C	ENSP00000397441.2:p.Gly549Ala
NM_001145079.1:c.1646G>C	NP_001138551.1:p.Gly549Ala
NM_020751.2:c.1646G>C	NP_065802.1:p.Gly549Ala
NR_026745.1:n.1811G>C
XM_011535168.1:c.1646G>C	XP_011533470.1:p.Gly549Ala
XM_011535169.1:c.1490G>C	XP_011533471.1:p.Gly497Ala
XM_011535170.1:c.1490G>C	XP_011533472.1:p.Gly497Ala
NM_020751.3:c.1646G>C MANE Select	NP_065802.1:p.Gly549Ala
NM_001145079.2:c.1646G>C	NP_001138551.1:p.Gly549Ala