Canonical Allele Identifier: CA2275255383

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920002C= , CM000679.2:g.74920002C=	GRCh38
NC_000017.10:g.72916097C= , CM000679.1:g.72916097C=	GRCh37
NC_000017.9:g.70427692C=	NCBI36
NG_007882.1:g.8255G=
NG_033062.1:g.728C=
NG_007882.2:g.8262G=
NG_033062.2:g.728C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.834G= MANE Select	ENSP00000480279.1:p.Ser278=
ENST00000579243.1:c.*433G=	ENSP00000462568.1:n.*433G=
ENST00000614341.4:c.834G=	ENSP00000480279.1:p.Ser278=
NM_001282489.2:c.525G=	NP_001269418.1:p.Ser175=
NM_173477.4:c.834G=	NP_775748.2:p.Ser278=
XM_011524296.1:c.525G=	XP_011522598.1:p.Ser175=
XM_011524296.2:c.525G=	XP_011522598.1:p.Ser175=
NM_173477.5:c.834G= MANE Select	NP_775748.2:p.Ser278=
NM_001282489.3:c.525G=	NP_001269418.1:p.Ser175=