Canonical Allele Identifier: CA2275255192

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919649A= , CM000679.2:g.74919649A=	GRCh38
NC_000017.10:g.72915744A= , CM000679.1:g.72915744A=	GRCh37
NC_000017.9:g.70427339A=	NCBI36
NG_007882.1:g.8608T=
NG_033062.1:g.375A=
NG_007882.2:g.8615T=
NG_033062.2:g.375A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1187T= MANE Select	ENSP00000480279.1:p.Leu396=
ENST00000579243.1:c.*786T=	ENSP00000462568.1:n.*786T=
ENST00000614341.4:c.1187T=	ENSP00000480279.1:p.Leu396=
NM_001282489.2:c.878T=	NP_001269418.1:p.Leu293=
NM_173477.4:c.1187T=	NP_775748.2:p.Leu396=
XM_011524296.1:c.878T=	XP_011522598.1:p.Leu293=
XM_011524296.2:c.878T=	XP_011522598.1:p.Leu293=
NM_173477.5:c.1187T= MANE Select	NP_775748.2:p.Leu396=
NM_001282489.3:c.878T=	NP_001269418.1:p.Leu293=