Canonical Allele Identifier: CA2126950717

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878859T= , CM000676.2:g.30878859T=	GRCh38
NC_000014.8:g.31348065T= , CM000676.1:g.31348065T=	GRCh37
NC_000014.7:g.30417816T=	NCBI36
NG_008211.2:g.9325T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.483T=	ENSP00000216361.5:p.Pro161=
ENST00000396618.9:c.288T= MANE Select	ENSP00000379862.3:p.Pro96=
ENST00000555117.2:c.288T=	ENSP00000493569.1:p.Pro96=
ENST00000643575.1:c.288T=	ENSP00000494838.1:p.Pro96=
ENST00000643697.1:n.533T=
ENST00000644874.2:c.288T=	ENSP00000496360.1:p.Pro96=
ENST00000216361.8:c.288T=	ENSP00000216361.4:p.Pro96=
ENST00000396618.7:c.288T=	ENSP00000379862.3:p.Pro96=
ENST00000460581.6:c.-49T=	ENSP00000451713.1:n.-49T=
ENST00000475087.5:c.288T=	ENSP00000451528.1:p.Pro96=
ENST00000553772.5:c.239+1131T=	ENSP00000452343.1:n.239+1131T=
ENST00000553833.5:n.442T=
ENST00000555881.5:c.83-1593T=	ENSP00000452569.1:n.83-1593T=
ENST00000556908.5:c.240T=	ENSP00000452541.1:p.Pro80=
ENST00000557065.1:c.156-564T=	ENSP00000451629.1:n.156-564T=
NM_001135058.1:c.288T=	NP_001128530.1:p.Pro96=
NM_004086.2:c.288T=	NP_004077.1:p.Pro96=
NR_038356.1:n.1618-2307A=
XM_011536539.1:c.288T=	XP_011534841.1:p.Pro96=
NM_001347720.1:c.483T=	NP_001334649.1:p.Pro161=
XM_017021071.1:c.483T=	XP_016876560.1:p.Pro161=
XM_024449506.1:c.288T=	XP_024305274.1:p.Pro96=
NM_004086.3:c.288T= MANE Select	NP_004077.1:p.Pro96=
NM_001135058.2:c.288T=	NP_001128530.1:p.Pro96=
NM_001347720.2:c.483T=	NP_001334649.1:p.Pro161=