Canonical Allele Identifier: CA13475100
Gene: OPCML HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.132959967A>G , CM000673.2:g.132959967A>G GRCh38
NC_000011.9:g.132829862A>G , CM000673.1:g.132829862A>G GRCh37
NC_000011.8:g.132335072A>G NCBI36
NG_012107.1:g.577542T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524381.6:c.62-16957T>C MANE Select ENSP00000434750.1:n.62-16957T>C
ENST00000524381.5:c.62-16957T>C ENSP00000434750.1:n.62-16957T>C
ENST00000529038.5:n.140-302648T>C
NM_001012393.1:c.62-16957T>C NP_001012393.1:n.62-16957T>C
XM_006718846.1:c.62-16957T>C XP_006718909.1:n.62-16957T>C
XM_011542856.1:c.-41-16957T>C XP_011541158.1:n.-41-16957T>C
XR_948205.1:n.33A>G
NM_001012393.2:c.62-16957T>C NP_001012393.1:n.62-16957T>C
NM_001319104.1:c.-133-302648T>C NP_001306033.1:n.-133-302648T>C
XM_006718846.3:c.62-16957T>C XP_006718909.1:n.62-16957T>C
XM_011542856.3:c.-41-16957T>C XP_011541158.1:n.-41-16957T>C
XR_948205.2:n.21A>G
NM_001012393.3:c.62-16957T>C NP_001012393.1:n.62-16957T>C
NM_001319104.2:c.-133-302648T>C NP_001306033.1:n.-133-302648T>C
NM_001012393.5:c.62-16957T>C MANE Select NP_001012393.1:n.62-16957T>C
NM_001319104.4:c.-133-302648T>C NP_001306033.1:n.-133-302648T>C