Canonical Allele Identifier: CA39497640
Community Standard Title: NM_001206641.3(COA6):c.213-105T>G
Gene: COA6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.234374125T>G , CM000663.2:g.234374125T>G GRCh38
NC_000001.10:g.234509871T>G , CM000663.1:g.234509871T>G GRCh37
NC_000001.9:g.232576494T>G NCBI36
NG_034250.1:g.5689T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001206641.3:c.213-105T>G MANE Select NP_001193570.2:n.213-105T>G
ENST00000366615.10:c.213-105T>G MANE Select ENSP00000355574.5:n.213-105T>G
NM_001012985.2:c.123-105T>G NP_001013003.1:n.123-105T>G
NM_001206641.2:c.213-105T>G NP_001193570.2:n.213-105T>G
NM_001301733.1:c.-121T>G NP_001288662.1:n.-121T>G
ENST00000366612.1:c.-121T>G ENSP00000355571.1:n.-121T>G
ENST00000366613.1:c.123-105T>G ENSP00000355572.1:n.123-105T>G
ENST00000366615.8:c.213-105T>G ENSP00000355574.4:n.213-105T>G
ENST00000619305.1:c.-16-105T>G ENSP00000479686.1:n.-16-105T>G