Canonical Allele Identifier: CA400963885

Gene: USH1G

Linked Data

• MyVariant Identifiers: chr17:g.72916248T>G (hg19) ; chr17:g.74920153T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920153T>G , CM000679.2:g.74920153T>G	GRCh38
NC_000017.10:g.72916248T>G , CM000679.1:g.72916248T>G	GRCh37
NC_000017.9:g.70427843T>G	NCBI36
NG_007882.1:g.8104A>C
NG_033062.1:g.879T>G
NG_007882.2:g.8111A>C
NG_033062.2:g.879T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.683A>C MANE Select	ENSP00000480279.1:p.Glu228Ala
ENST00000579243.1:c.*282A>C	ENSP00000462568.1:n.*282A>C
ENST00000614341.4:c.683A>C	ENSP00000480279.1:p.Glu228Ala
NM_001282489.2:c.374A>C	NP_001269418.1:p.Glu125Ala
NM_173477.4:c.683A>C	NP_775748.2:p.Glu228Ala
XM_011524296.1:c.374A>C	XP_011522598.1:p.Glu125Ala
XM_011524296.2:c.374A>C	XP_011522598.1:p.Glu125Ala
NM_173477.5:c.683A>C MANE Select	NP_775748.2:p.Glu228Ala
NM_001282489.3:c.374A>C	NP_001269418.1:p.Glu125Ala