Canonical Allele Identifier: CA2275255384

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920003G= , CM000679.2:g.74920003G=	GRCh38
NC_000017.10:g.72916098G= , CM000679.1:g.72916098G=	GRCh37
NC_000017.9:g.70427693G=	NCBI36
NG_007882.1:g.8254C=
NG_033062.1:g.729G=
NG_007882.2:g.8261C=
NG_033062.2:g.729G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.833C= MANE Select	ENSP00000480279.1:p.Ser278=
ENST00000579243.1:c.*432C=	ENSP00000462568.1:n.*432C=
ENST00000614341.4:c.833C=	ENSP00000480279.1:p.Ser278=
NM_001282489.2:c.524C=	NP_001269418.1:p.Ser175=
NM_173477.4:c.833C=	NP_775748.2:p.Ser278=
XM_011524296.1:c.524C=	XP_011522598.1:p.Ser175=
XM_011524296.2:c.524C=	XP_011522598.1:p.Ser175=
NM_173477.5:c.833C= MANE Select	NP_775748.2:p.Ser278=
NM_001282489.3:c.524C=	NP_001269418.1:p.Ser175=