Canonical Allele Identifier: CA2126949160

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30877640C= , CM000676.2:g.30877640C=	GRCh38
NC_000014.8:g.31346846C= , CM000676.1:g.31346846C=	GRCh37
NC_000014.7:g.30416597C=	NCBI36
NG_008211.2:g.8106C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.346C=	ENSP00000216361.5:p.Pro116=
ENST00000396618.9:c.151C= MANE Select	ENSP00000379862.3:p.Pro51=
ENST00000555117.2:c.151C=	ENSP00000493569.1:p.Pro51=
ENST00000643575.1:c.151C=	ENSP00000494838.1:p.Pro51=
ENST00000643697.1:n.396C=
ENST00000644874.2:c.151C=	ENSP00000496360.1:p.Pro51=
ENST00000216361.8:c.151C=	ENSP00000216361.4:p.Pro51=
ENST00000396618.7:c.151C=	ENSP00000379862.3:p.Pro51=
ENST00000460581.6:c.-186C=	ENSP00000451713.1:n.-186C=
ENST00000475087.5:c.151C=	ENSP00000451528.1:p.Pro51=
ENST00000553772.5:c.151C=	ENSP00000452343.1:p.Pro51=
ENST00000553833.5:n.305C=
ENST00000555881.5:c.82+2537C=	ENSP00000452569.1:n.82+2537C=
ENST00000556908.5:c.103C=	ENSP00000452541.1:p.Pro35=
ENST00000557065.1:c.67C=	ENSP00000451629.1:p.Pro23=
NM_001135058.1:c.151C=	NP_001128530.1:p.Pro51=
NM_004086.2:c.151C=	NP_004077.1:p.Pro51=
NR_038356.1:n.1618-1088G=
XM_011536539.1:c.151C=	XP_011534841.1:p.Pro51=
NM_001347720.1:c.346C=	NP_001334649.1:p.Pro116=
XM_017021071.1:c.346C=	XP_016876560.1:p.Pro116=
XM_024449506.1:c.151C=	XP_024305274.1:p.Pro51=
NM_004086.3:c.151C= MANE Select	NP_004077.1:p.Pro51=
NM_001135058.2:c.151C=	NP_001128530.1:p.Pro51=
NM_001347720.2:c.346C=	NP_001334649.1:p.Pro116=