Canonical Allele Identifier: CA2275255328

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919901A= , CM000679.2:g.74919901A=	GRCh38
NC_000017.10:g.72915996A= , CM000679.1:g.72915996A=	GRCh37
NC_000017.9:g.70427591A=	NCBI36
NG_007882.1:g.8356T=
NG_033062.1:g.627A=
NG_007882.2:g.8363T=
NG_033062.2:g.627A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.935T= MANE Select	ENSP00000480279.1:p.Leu312=
ENST00000579243.1:c.*534T=	ENSP00000462568.1:n.*534T=
ENST00000614341.4:c.935T=	ENSP00000480279.1:p.Leu312=
NM_001282489.2:c.626T=	NP_001269418.1:p.Leu209=
NM_173477.4:c.935T=	NP_775748.2:p.Leu312=
XM_011524296.1:c.626T=	XP_011522598.1:p.Leu209=
XM_011524296.2:c.626T=	XP_011522598.1:p.Leu209=
NM_173477.5:c.935T= MANE Select	NP_775748.2:p.Leu312=
NM_001282489.3:c.626T=	NP_001269418.1:p.Leu209=