Canonical Allele Identifier: CA502036639

Gene: USH1G

Linked Data

• dbSNP Id: rs1359525631
• gnomAD v3: 17-74920152-T-C
• gnomAD v4: 17-74920152-T-C
• MyVariant Identifiers: chr17:g.72916247T>C (hg19) ; chr17:g.74920152T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920152T>C , CM000679.2:g.74920152T>C	GRCh38
NC_000017.10:g.72916247T>C , CM000679.1:g.72916247T>C	GRCh37
NC_000017.9:g.70427842T>C	NCBI36
NG_007882.1:g.8105A>G
NG_033062.1:g.878T>C
NG_007882.2:g.8112A>G
NG_033062.2:g.878T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.684A>G MANE Select	ENSP00000480279.1:p.Glu228=
ENST00000579243.1:c.*283A>G	ENSP00000462568.1:n.*283A>G
ENST00000614341.4:c.684A>G	ENSP00000480279.1:p.Glu228=
NM_001282489.2:c.375A>G	NP_001269418.1:p.Glu125=
NM_173477.4:c.684A>G	NP_775748.2:p.Glu228=
XM_011524296.1:c.375A>G	XP_011522598.1:p.Glu125=
XM_011524296.2:c.375A>G	XP_011522598.1:p.Glu125=
NM_173477.5:c.684A>G MANE Select	NP_775748.2:p.Glu228=
NM_001282489.3:c.375A>G	NP_001269418.1:p.Glu125=