Canonical Allele Identifier: CA502036757

Gene: USH1G

Linked Data

• gnomAD v4: 17-74920203-C-T
• COSMIC: COSM984186
• MyVariant Identifiers: chr17:g.72916298C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920203C>T , CM000679.2:g.74920203C>T	GRCh38
NC_000017.10:g.72916298C>T , CM000679.1:g.72916298C>T	GRCh37
NC_000017.9:g.70427893C>T	NCBI36
NG_007882.1:g.8054G>A
NG_033062.1:g.929C>T
NG_007882.2:g.8061G>A
NG_033062.2:g.929C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.633G>A MANE Select	ENSP00000480279.1:p.Arg211=
ENST00000579243.1:c.*232G>A	ENSP00000462568.1:n.*232G>A
ENST00000614341.4:c.633G>A	ENSP00000480279.1:p.Arg211=
NM_001282489.2:c.324G>A	NP_001269418.1:p.Arg108=
NM_173477.4:c.633G>A	NP_775748.2:p.Arg211=
XM_011524296.1:c.324G>A	XP_011522598.1:p.Arg108=
XM_011524296.2:c.324G>A	XP_011522598.1:p.Arg108=
NM_173477.5:c.633G>A MANE Select	NP_775748.2:p.Arg211=
NM_001282489.3:c.324G>A	NP_001269418.1:p.Arg108=