Canonical Allele Identifier: CA2126960759

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30889681A= , CM000676.2:g.30889681A=	GRCh38
NC_000014.8:g.31358887A= , CM000676.1:g.31358887A=	GRCh37
NC_000014.7:g.30428638A=	NCBI36
NG_008211.2:g.20147A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.1738A=	ENSP00000216361.5:p.Lys580=
ENST00000396618.9:c.1543A= MANE Select	ENSP00000379862.3:p.Lys515=
ENST00000555117.2:c.1534+3369A=	ENSP00000493569.1:n.1534+3369A=
ENST00000643575.1:c.1543A=	ENSP00000494838.1:p.Lys515=
ENST00000643697.1:n.1845A=
ENST00000644874.2:c.1543A=	ENSP00000496360.1:p.Lys515=
ENST00000216361.8:c.1543A=	ENSP00000216361.4:p.Lys515=
ENST00000396618.7:c.1543A=	ENSP00000379862.3:p.Lys515=
ENST00000460581.6:c.1207A=	ENSP00000451713.1:p.Lys403=
ENST00000468826.2:c.1194A=
ENST00000475087.5:c.1477+3369A=	ENSP00000451528.1:n.1477+3369A=
NM_001135058.1:c.1543A=	NP_001128530.1:p.Lys515=
NM_004086.2:c.1543A=	NP_004077.1:p.Lys515=
NR_038356.1:n.128T=
XM_011536539.1:c.1543A=	XP_011534841.1:p.Lys515=
NM_001347720.1:c.1738A=	NP_001334649.1:p.Lys580=
XM_017021071.1:c.1738A=	XP_016876560.1:p.Lys580=
XM_024449506.1:c.1600A=	XP_024305274.1:p.Lys534=
NM_004086.3:c.1543A= MANE Select	NP_004077.1:p.Lys515=
NM_001135058.2:c.1543A=	NP_001128530.1:p.Lys515=
NM_001347720.2:c.1738A=	NP_001334649.1:p.Lys580=