Canonical Allele Identifier: CA2275255438

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920107C= , CM000679.2:g.74920107C=	GRCh38
NC_000017.10:g.72916202C= , CM000679.1:g.72916202C=	GRCh37
NC_000017.9:g.70427797C=	NCBI36
NG_007882.1:g.8150G=
NG_033062.1:g.833C=
NG_007882.2:g.8157G=
NG_033062.2:g.833C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.729G= MANE Select	ENSP00000480279.1:p.Ser243=
ENST00000579243.1:c.*328G=	ENSP00000462568.1:n.*328G=
ENST00000614341.4:c.729G=	ENSP00000480279.1:p.Ser243=
NM_001282489.2:c.420G=	NP_001269418.1:p.Ser140=
NM_173477.4:c.729G=	NP_775748.2:p.Ser243=
XM_011524296.1:c.420G=	XP_011522598.1:p.Ser140=
XM_011524296.2:c.420G=	XP_011522598.1:p.Ser140=
NM_173477.5:c.729G= MANE Select	NP_775748.2:p.Ser243=
NM_001282489.3:c.420G=	NP_001269418.1:p.Ser140=