Canonical Allele Identifier: CA2126957450

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30885454G= , CM000676.2:g.30885454G=	GRCh38
NC_000014.8:g.31354660G= , CM000676.1:g.31354660G=	GRCh37
NC_000014.7:g.30424411G=	NCBI36
NG_008211.2:g.15920G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.989G=	ENSP00000216361.5:p.Gly330=
ENST00000396618.9:c.794G= MANE Select	ENSP00000379862.3:p.Gly265=
ENST00000555117.2:c.851G=	ENSP00000493569.1:p.Gly284=
ENST00000643575.1:c.794G=	ENSP00000494838.1:p.Gly265=
ENST00000643697.1:n.1096G=
ENST00000644874.2:c.794G=	ENSP00000496360.1:p.Gly265=
ENST00000216361.8:c.794G=	ENSP00000216361.4:p.Gly265=
ENST00000396618.7:c.794G=	ENSP00000379862.3:p.Gly265=
ENST00000460581.6:c.458G=	ENSP00000451713.1:p.Gly153=
ENST00000468826.2:c.445G=
ENST00000475087.5:c.794G=	ENSP00000451528.1:p.Gly265=
ENST00000555881.5:c.440G=	ENSP00000452569.1:p.Gly147=
ENST00000557065.1:c.576G=	ENSP00000451629.1:n.576G=
NM_001135058.1:c.794G=	NP_001128530.1:p.Gly265=
NM_004086.2:c.794G=	NP_004077.1:p.Gly265=
NR_038356.1:n.1411C=
XM_011536539.1:c.794G=	XP_011534841.1:p.Gly265=
NM_001347720.1:c.989G=	NP_001334649.1:p.Gly330=
XM_017021071.1:c.989G=	XP_016876560.1:p.Gly330=
XM_024449506.1:c.851G=	XP_024305274.1:p.Gly284=
NM_004086.3:c.794G= MANE Select	NP_004077.1:p.Gly265=
NM_001135058.2:c.794G=	NP_001128530.1:p.Gly265=
NM_001347720.2:c.989G=	NP_001334649.1:p.Gly330=