Canonical Allele Identifier: CA400963685

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1716396
• ClinVar RCV Id: RCV002303460 ; RCV003308109
• dbSNP Id: rs1187467461
• gnomAD v4: 17-74920114-G-A
• MyVariant Identifiers: chr17:g.72916209G>A (hg19) ; chr17:g.74920114G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920114G>A , CM000679.2:g.74920114G>A	GRCh38
NC_000017.10:g.72916209G>A , CM000679.1:g.72916209G>A	GRCh37
NC_000017.9:g.70427804G>A	NCBI36
NG_007882.1:g.8143C>T
NG_033062.1:g.840G>A
NG_007882.2:g.8150C>T
NG_033062.2:g.840G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.722C>T MANE Select	ENSP00000480279.1:p.Ala241Val
ENST00000579243.1:c.*321C>T	ENSP00000462568.1:n.*321C>T
ENST00000614341.4:c.722C>T	ENSP00000480279.1:p.Ala241Val
NM_001282489.2:c.413C>T	NP_001269418.1:p.Ala138Val
NM_173477.4:c.722C>T	NP_775748.2:p.Ala241Val
XM_011524296.1:c.413C>T	XP_011522598.1:p.Ala138Val
XM_011524296.2:c.413C>T	XP_011522598.1:p.Ala138Val
NM_173477.5:c.722C>T MANE Select	NP_775748.2:p.Ala241Val
NM_001282489.3:c.413C>T	NP_001269418.1:p.Ala138Val