Canonical Allele Identifier: CA2126950648

Gene: COCH

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.30878822G= , CM000676.2:g.30878822G=	GRCh38
NC_000014.8:g.31348028G= , CM000676.1:g.31348028G=	GRCh37
NC_000014.7:g.30417779G=	NCBI36
NG_008211.2:g.9288G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216361.9:c.446G=	ENSP00000216361.5:p.Ser149=
ENST00000396618.9:c.251G= MANE Select	ENSP00000379862.3:p.Ser84=
ENST00000555117.2:c.251G=	ENSP00000493569.1:p.Ser84=
ENST00000643575.1:c.251G=	ENSP00000494838.1:p.Ser84=
ENST00000643697.1:n.496G=
ENST00000644874.2:c.251G=	ENSP00000496360.1:p.Ser84=
ENST00000216361.8:c.251G=	ENSP00000216361.4:p.Ser84=
ENST00000396618.7:c.251G=	ENSP00000379862.3:p.Ser84=
ENST00000460581.6:c.-86G=	ENSP00000451713.1:n.-86G=
ENST00000475087.5:c.251G=	ENSP00000451528.1:p.Ser84=
ENST00000553772.5:c.239+1094G=	ENSP00000452343.1:n.239+1094G=
ENST00000553833.5:n.405G=
ENST00000555881.5:c.83-1630G=	ENSP00000452569.1:n.83-1630G=
ENST00000556908.5:c.203G=	ENSP00000452541.1:p.Ser68=
ENST00000557065.1:c.156-601G=	ENSP00000451629.1:n.156-601G=
NM_001135058.1:c.251G=	NP_001128530.1:p.Ser84=
NM_004086.2:c.251G=	NP_004077.1:p.Ser84=
NR_038356.1:n.1618-2270C=
XM_011536539.1:c.251G=	XP_011534841.1:p.Ser84=
NM_001347720.1:c.446G=	NP_001334649.1:p.Ser149=
XM_017021071.1:c.446G=	XP_016876560.1:p.Ser149=
XM_024449506.1:c.251G=	XP_024305274.1:p.Ser84=
NM_004086.3:c.251G= MANE Select	NP_004077.1:p.Ser84=
NM_001135058.2:c.251G=	NP_001128530.1:p.Ser84=
NM_001347720.2:c.446G=	NP_001334649.1:p.Ser149=