Canonical Allele Identifier: CA400961529

Gene: USH1G

Linked Data

• dbSNP Id: rs199724052
• gnomAD v3: 17-74919666-G-T
• gnomAD v4: 17-74919666-G-T
• MyVariant Identifiers: chr17:g.72915761G>T (hg19) ; chr17:g.74919666G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919666G>T , CM000679.2:g.74919666G>T	GRCh38
NC_000017.10:g.72915761G>T , CM000679.1:g.72915761G>T	GRCh37
NC_000017.9:g.70427356G>T	NCBI36
NG_007882.1:g.8591C>A
NG_033062.1:g.392G>T
NG_007882.2:g.8598C>A
NG_033062.2:g.392G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1170C>A MANE Select	ENSP00000480279.1:p.Ser390Arg
ENST00000579243.1:c.*769C>A	ENSP00000462568.1:n.*769C>A
ENST00000614341.4:c.1170C>A	ENSP00000480279.1:p.Ser390Arg
NM_001282489.2:c.861C>A	NP_001269418.1:p.Ser287Arg
NM_173477.4:c.1170C>A	NP_775748.2:p.Ser390Arg
XM_011524296.1:c.861C>A	XP_011522598.1:p.Ser287Arg
XM_011524296.2:c.861C>A	XP_011522598.1:p.Ser287Arg
NM_173477.5:c.1170C>A MANE Select	NP_775748.2:p.Ser390Arg
NM_001282489.3:c.861C>A	NP_001269418.1:p.Ser287Arg