Canonical Allele Identifier: CA170599

Gene: COA6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.234374366G>T , CM000663.2:g.234374366G>T	GRCh38
NC_000001.10:g.234510112G>T , CM000663.1:g.234510112G>T	GRCh37
NC_000001.9:g.232576735G>T	NCBI36
NG_034250.1:g.5930G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001206641.3:c.349G>T MANE Select	NP_001193570.2:p.Glu117Ter
ENST00000366615.10:c.349G>T MANE Select	ENSP00000355574.5:p.Glu117Ter
NM_001012985.2:c.259G>T	NP_001013003.1:p.Glu87Ter
NM_001206641.2:c.349G>T	NP_001193570.2:p.Glu117Ter
NM_001301733.1:c.121G>T	NP_001288662.1:p.Glu41Ter
ENST00000366612.1:c.121G>T	ENSP00000355571.1:p.Glu41Ter
ENST00000366613.1:c.259G>T	ENSP00000355572.1:p.Glu87Ter
ENST00000366615.8:c.349G>T	ENSP00000355574.4:p.Glu117Ter
ENST00000619305.1:c.121G>T	ENSP00000479686.1:p.Glu41Ter