Canonical Allele Identifier: CA2126951212

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30879423A= , CM000676.2:g.30879423A=	GRCh38
NC_000014.8:g.31348629A= , CM000676.1:g.31348629A=	GRCh37
NC_000014.7:g.30418380A=	NCBI36
NG_008211.2:g.9889A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.569A=	ENSP00000216361.5:p.Lys190=
ENST00000396618.9:c.374A= MANE Select	ENSP00000379862.3:p.Lys125=
ENST00000555117.2:c.374A=	ENSP00000493569.1:p.Lys125=
ENST00000643575.1:c.374A=	ENSP00000494838.1:p.Lys125=
ENST00000643697.1:n.619A=
ENST00000644874.2:c.374A=	ENSP00000496360.1:p.Lys125=
ENST00000216361.8:c.374A=	ENSP00000216361.4:p.Lys125=
ENST00000396618.7:c.374A=	ENSP00000379862.3:p.Lys125=
ENST00000460581.6:c.38A=	ENSP00000451713.1:p.Lys13=
ENST00000475087.5:c.374A=	ENSP00000451528.1:p.Lys125=
ENST00000553772.5:c.240-1029A=	ENSP00000452343.1:n.240-1029A=
ENST00000553833.5:n.528A=
ENST00000555881.5:c.83-1029A=	ENSP00000452569.1:n.83-1029A=
ENST00000556908.5:c.326A=	ENSP00000452541.1:p.Lys109=
ENST00000557065.1:c.156A=	ENSP00000451629.1:p.Arg52=
NM_001135058.1:c.374A=	NP_001128530.1:p.Lys125=
NM_004086.2:c.374A=	NP_004077.1:p.Lys125=
NR_038356.1:n.1618-2871T=
XM_011536539.1:c.374A=	XP_011534841.1:p.Lys125=
NM_001347720.1:c.569A=	NP_001334649.1:p.Lys190=
XM_017021071.1:c.569A=	XP_016876560.1:p.Lys190=
XM_024449506.1:c.374A=	XP_024305274.1:p.Lys125=
NM_004086.3:c.374A= MANE Select	NP_004077.1:p.Lys125=
NM_001135058.2:c.374A=	NP_001128530.1:p.Lys125=
NM_001347720.2:c.569A=	NP_001334649.1:p.Lys190=