Canonical Allele Identifier: CA13495774

Gene: OPCML

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.133522399G>T , CM000673.2:g.133522399G>T	GRCh38
NC_000011.9:g.133392294G>T , CM000673.1:g.133392294G>T	GRCh37
NC_000011.8:g.132897504G>T	NCBI36
NG_012107.1:g.15110C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001012393.5:c.61+9865C>A MANE Select	NP_001012393.1:n.61+9865C>A
ENST00000524381.6:c.61+9865C>A MANE Select	ENSP00000434750.1:n.61+9865C>A
NM_001012393.1:c.61+9865C>A	NP_001012393.1:n.61+9865C>A
NM_001012393.2:c.61+9865C>A	NP_001012393.1:n.61+9865C>A
NM_001012393.3:c.61+9865C>A	NP_001012393.1:n.61+9865C>A
NM_001319104.1:c.-134+9865C>A	NP_001306033.1:n.-134+9865C>A
NM_001319104.2:c.-134+9865C>A	NP_001306033.1:n.-134+9865C>A
NM_001319104.4:c.-134+9865C>A	NP_001306033.1:n.-134+9865C>A
ENST00000524381.5:c.61+9865C>A	ENSP00000434750.1:n.61+9865C>A
ENST00000529038.5:n.139+9865C>A
XM_006718846.1:c.61+9865C>A	XP_006718909.1:n.61+9865C>A
XM_006718846.3:c.61+9865C>A	XP_006718909.1:n.61+9865C>A
XM_011542856.3:c.-207+9865C>A	XP_011541158.1:n.-207+9865C>A