Canonical Allele Identifier: CA502036682

Gene: USH1G

Linked Data

• dbSNP Id: rs2038921596
• gnomAD v4: 17-74920172-G-T
• MyVariant Identifiers: chr17:g.72916267G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920172G>T , CM000679.2:g.74920172G>T	GRCh38
NC_000017.10:g.72916267G>T , CM000679.1:g.72916267G>T	GRCh37
NC_000017.9:g.70427862G>T	NCBI36
NG_007882.1:g.8085C>A
NG_033062.1:g.898G>T
NG_007882.2:g.8092C>A
NG_033062.2:g.898G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.664C>A MANE Select	ENSP00000480279.1:p.Arg222=
ENST00000579243.1:c.*263C>A	ENSP00000462568.1:n.*263C>A
ENST00000614341.4:c.664C>A	ENSP00000480279.1:p.Arg222=
NM_001282489.2:c.355C>A	NP_001269418.1:p.Arg119=
NM_173477.4:c.664C>A	NP_775748.2:p.Arg222=
XM_011524296.1:c.355C>A	XP_011522598.1:p.Arg119=
XM_011524296.2:c.355C>A	XP_011522598.1:p.Arg119=
NM_173477.5:c.664C>A MANE Select	NP_775748.2:p.Arg222=
NM_001282489.3:c.355C>A	NP_001269418.1:p.Arg119=