Canonical Allele Identifier: CA2275255486

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920189A= , CM000679.2:g.74920189A=	GRCh38
NC_000017.10:g.72916284A= , CM000679.1:g.72916284A=	GRCh37
NC_000017.9:g.70427879A=	NCBI36
NG_007882.1:g.8068T=
NG_033062.1:g.915A=
NG_007882.2:g.8075T=
NG_033062.2:g.915A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.647T= MANE Select	ENSP00000480279.1:p.Met216=
ENST00000579243.1:c.*246T=	ENSP00000462568.1:n.*246T=
ENST00000614341.4:c.647T=	ENSP00000480279.1:p.Met216=
NM_001282489.2:c.338T=	NP_001269418.1:p.Met113=
NM_173477.4:c.647T=	NP_775748.2:p.Met216=
XM_011524296.1:c.338T=	XP_011522598.1:p.Met113=
XM_011524296.2:c.338T=	XP_011522598.1:p.Met113=
NM_173477.5:c.647T= MANE Select	NP_775748.2:p.Met216=
NM_001282489.3:c.338T=	NP_001269418.1:p.Met113=