Canonical Allele Identifier: CA2275255158

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919579C= , CM000679.2:g.74919579C=	GRCh38
NC_000017.10:g.72915674C= , CM000679.1:g.72915674C=	GRCh37
NC_000017.9:g.70427269C=	NCBI36
NG_007882.1:g.8678G=
NG_033062.1:g.305C=
NG_007882.2:g.8685G=
NG_033062.2:g.305C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1257G= MANE Select	ENSP00000480279.1:p.Met419=
ENST00000579243.1:c.*856G=	ENSP00000462568.1:n.*856G=
ENST00000614341.4:c.1257G=	ENSP00000480279.1:p.Met419=
NM_001282489.2:c.948G=	NP_001269418.1:p.Met316=
NM_173477.4:c.1257G=	NP_775748.2:p.Met419=
XM_011524296.1:c.948G=	XP_011522598.1:p.Met316=
XM_011524296.2:c.948G=	XP_011522598.1:p.Met316=
NM_173477.5:c.1257G= MANE Select	NP_775748.2:p.Met419=
NM_001282489.3:c.948G=	NP_001269418.1:p.Met316=