Canonical Allele Identifier: CA400961513

Gene: USH1G

Linked Data

• gnomAD v4: 17-74919658-T-C
• MyVariant Identifiers: chr17:g.72915753T>C (hg19) ; chr17:g.74919658T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919658T>C , CM000679.2:g.74919658T>C	GRCh38
NC_000017.10:g.72915753T>C , CM000679.1:g.72915753T>C	GRCh37
NC_000017.9:g.70427348T>C	NCBI36
NG_007882.1:g.8599A>G
NG_033062.1:g.384T>C
NG_007882.2:g.8606A>G
NG_033062.2:g.384T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1178A>G MANE Select	ENSP00000480279.1:p.Glu393Gly
ENST00000579243.1:c.*777A>G	ENSP00000462568.1:n.*777A>G
ENST00000614341.4:c.1178A>G	ENSP00000480279.1:p.Glu393Gly
NM_001282489.2:c.869A>G	NP_001269418.1:p.Glu290Gly
NM_173477.4:c.1178A>G	NP_775748.2:p.Glu393Gly
XM_011524296.1:c.869A>G	XP_011522598.1:p.Glu290Gly
XM_011524296.2:c.869A>G	XP_011522598.1:p.Glu290Gly
NM_173477.5:c.1178A>G MANE Select	NP_775748.2:p.Glu393Gly
NM_001282489.3:c.869A>G	NP_001269418.1:p.Glu290Gly