Canonical Allele Identifier: CA2126950704

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878853C= , CM000676.2:g.30878853C=	GRCh38
NC_000014.8:g.31348059C= , CM000676.1:g.31348059C=	GRCh37
NC_000014.7:g.30417810C=	NCBI36
NG_008211.2:g.9319C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.477C=	ENSP00000216361.5:p.Ser159=
ENST00000396618.9:c.282C= MANE Select	ENSP00000379862.3:p.Ser94=
ENST00000555117.2:c.282C=	ENSP00000493569.1:p.Ser94=
ENST00000643575.1:c.282C=	ENSP00000494838.1:p.Ser94=
ENST00000643697.1:n.527C=
ENST00000644874.2:c.282C=	ENSP00000496360.1:p.Ser94=
ENST00000216361.8:c.282C=	ENSP00000216361.4:p.Ser94=
ENST00000396618.7:c.282C=	ENSP00000379862.3:p.Ser94=
ENST00000460581.6:c.-55C=	ENSP00000451713.1:n.-55C=
ENST00000475087.5:c.282C=	ENSP00000451528.1:p.Ser94=
ENST00000553772.5:c.239+1125C=	ENSP00000452343.1:n.239+1125C=
ENST00000553833.5:n.436C=
ENST00000555881.5:c.83-1599C=	ENSP00000452569.1:n.83-1599C=
ENST00000556908.5:c.234C=	ENSP00000452541.1:p.Ser78=
ENST00000557065.1:c.156-570C=	ENSP00000451629.1:n.156-570C=
NM_001135058.1:c.282C=	NP_001128530.1:p.Ser94=
NM_004086.2:c.282C=	NP_004077.1:p.Ser94=
NR_038356.1:n.1618-2301G=
XM_011536539.1:c.282C=	XP_011534841.1:p.Ser94=
NM_001347720.1:c.477C=	NP_001334649.1:p.Ser159=
XM_017021071.1:c.477C=	XP_016876560.1:p.Ser159=
XM_024449506.1:c.282C=	XP_024305274.1:p.Ser94=
NM_004086.3:c.282C= MANE Select	NP_004077.1:p.Ser94=
NM_001135058.2:c.282C=	NP_001128530.1:p.Ser94=
NM_001347720.2:c.477C=	NP_001334649.1:p.Ser159=