Canonical Allele Identifier: CA388097627

Gene: COG3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.45465160T>C , CM000675.2:g.45465160T>C	GRCh38
NC_000013.10:g.46039295T>C , CM000675.1:g.46039295T>C	GRCh37
NC_000013.9:g.44937296T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_031431.4:c.124T>C MANE Select	NP_113619.3:p.Ser42Pro
ENST00000349995.10:c.124T>C MANE Select	ENSP00000258654.8:p.Ser42Pro
NM_031431.3:c.124T>C	NP_113619.2:p.Ser42Pro
ENST00000349995.9:c.124T>C	ENSP00000258654.8:p.Ser42Pro
ENST00000476702.1:c.97T>C	ENSP00000482221.1:p.Ser33Pro
ENST00000617325.1:n.263T>C
ENST00000617493.1:c.124T>C	ENSP00000481332.1:p.Ser42Pro
XM_011535266.1:c.-428T>C	XP_011533568.1:n.-428T>C
XM_011535266.2:c.-428T>C	XP_011533568.1:n.-428T>C
XM_011535267.1:c.124T>C	XP_011533569.1:p.Ser42Pro
XM_011535267.3:c.124T>C	XP_011533569.1:p.Ser42Pro
XM_011535268.1:c.124T>C	XP_011533570.1:p.Ser42Pro
XR_001749695.2:n.245T>C
XR_001749696.2:n.245T>C
XR_245400.1:n.246T>C
XR_429222.2:n.246T>C
XR_429222.4:n.245T>C