Canonical Allele Identifier: CA400963030

Gene: USH1G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919999G>T , CM000679.2:g.74919999G>T	GRCh38
NC_000017.10:g.72916094G>T , CM000679.1:g.72916094G>T	GRCh37
NC_000017.9:g.70427689G>T	NCBI36
NG_007882.1:g.8258C>A
NG_033062.1:g.725G>T
NG_007882.2:g.8265C>A
NG_033062.2:g.725G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_173477.5:c.837C>A MANE Select	NP_775748.2:p.Asp279Glu
ENST00000614341.5:c.837C>A MANE Select	ENSP00000480279.1:p.Asp279Glu
NM_001282489.2:c.528C>A	NP_001269418.1:p.Asp176Glu
NM_001282489.3:c.528C>A	NP_001269418.1:p.Asp176Glu
NM_173477.4:c.837C>A	NP_775748.2:p.Asp279Glu
ENST00000579243.1:c.*436C>A	ENSP00000462568.1:n.*436C>A
ENST00000614341.4:c.837C>A	ENSP00000480279.1:p.Asp279Glu
XM_011524296.1:c.528C>A	XP_011522598.1:p.Asp176Glu
XM_011524296.2:c.528C>A	XP_011522598.1:p.Asp176Glu