Canonical Allele Identifier: CA2275255201

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919667C= , CM000679.2:g.74919667C=	GRCh38
NC_000017.10:g.72915762C= , CM000679.1:g.72915762C=	GRCh37
NC_000017.9:g.70427357C=	NCBI36
NG_007882.1:g.8590G=
NG_033062.1:g.393C=
NG_007882.2:g.8597G=
NG_033062.2:g.393C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1169G= MANE Select	ENSP00000480279.1:p.Ser390=
ENST00000579243.1:c.*768G=	ENSP00000462568.1:n.*768G=
ENST00000614341.4:c.1169G=	ENSP00000480279.1:p.Ser390=
NM_001282489.2:c.860G=	NP_001269418.1:p.Ser287=
NM_173477.4:c.1169G=	NP_775748.2:p.Ser390=
XM_011524296.1:c.860G=	XP_011522598.1:p.Ser287=
XM_011524296.2:c.860G=	XP_011522598.1:p.Ser287=
NM_173477.5:c.1169G= MANE Select	NP_775748.2:p.Ser390=
NM_001282489.3:c.860G=	NP_001269418.1:p.Ser287=