Canonical Allele Identifier: CA2126951232

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30879482A= , CM000676.2:g.30879482A=	GRCh38
NC_000014.8:g.31348688A= , CM000676.1:g.31348688A=	GRCh37
NC_000014.7:g.30418439A=	NCBI36
NG_008211.2:g.9948A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.628A=	ENSP00000216361.5:p.Thr210=
ENST00000396618.9:c.433A= MANE Select	ENSP00000379862.3:p.Thr145=
ENST00000555117.2:c.433A=	ENSP00000493569.1:p.Thr145=
ENST00000643575.1:c.433A=	ENSP00000494838.1:p.Thr145=
ENST00000643697.1:n.678A=
ENST00000644874.2:c.433A=	ENSP00000496360.1:p.Thr145=
ENST00000216361.8:c.433A=	ENSP00000216361.4:p.Thr145=
ENST00000396618.7:c.433A=	ENSP00000379862.3:p.Thr145=
ENST00000460581.6:c.97A=	ENSP00000451713.1:p.Thr33=
ENST00000475087.5:c.433A=	ENSP00000451528.1:p.Thr145=
ENST00000553772.5:c.240-970A=	ENSP00000452343.1:n.240-970A=
ENST00000553833.5:n.587A=
ENST00000555881.5:c.83-970A=	ENSP00000452569.1:n.83-970A=
ENST00000556908.5:c.385A=	ENSP00000452541.1:p.Thr129=
ENST00000557065.1:c.215A=	ENSP00000451629.1:n.215A=
NM_001135058.1:c.433A=	NP_001128530.1:p.Thr145=
NM_004086.2:c.433A=	NP_004077.1:p.Thr145=
NR_038356.1:n.1618-2930T=
XM_011536539.1:c.433A=	XP_011534841.1:p.Thr145=
NM_001347720.1:c.628A=	NP_001334649.1:p.Thr210=
XM_017021071.1:c.628A=	XP_016876560.1:p.Thr210=
XM_024449506.1:c.433A=	XP_024305274.1:p.Thr145=
NM_004086.3:c.433A= MANE Select	NP_004077.1:p.Thr145=
NM_001135058.2:c.433A=	NP_001128530.1:p.Thr145=
NM_001347720.2:c.628A=	NP_001334649.1:p.Thr210=