Canonical Allele Identifier: CA1459982

Gene: COA6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.234373707C>T , CM000663.2:g.234373707C>T	GRCh38
NC_000001.10:g.234509453C>T , CM000663.1:g.234509453C>T	GRCh37
NC_000001.9:g.232576076C>T	NCBI36
NG_034250.1:g.5271C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001206641.3:c.212+29C>T MANE Select	NP_001193570.2:n.212+29C>T
ENST00000366615.10:c.212+29C>T MANE Select	ENSP00000355574.5:n.212+29C>T
NM_001012985.2:c.-12C>T	NP_001013003.1:n.-12C>T
NM_001206641.2:c.212+29C>T	NP_001193570.2:n.212+29C>T
NM_001301733.1:c.-539C>T	NP_001288662.1:n.-539C>T
ENST00000366612.1:c.-539C>T	ENSP00000355571.1:n.-539C>T
ENST00000366613.1:c.-12C>T	ENSP00000355572.1:n.-12C>T
ENST00000366615.8:c.212+29C>T	ENSP00000355574.4:n.212+29C>T
ENST00000619305.1:c.-17+29C>T	ENSP00000479686.1:n.-17+29C>T