Canonical Allele Identifier: CA400964322

Gene: USH1G

Linked Data

• dbSNP Id: rs1288611714
• gnomAD v2: 17-72916317-G-A
• gnomAD v4: 17-74920222-G-A
• COSMIC: COSM304364
• MyVariant Identifiers: chr17:g.72916317G>A (hg19) ; chr17:g.74920222G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920222G>A , CM000679.2:g.74920222G>A	GRCh38
NC_000017.10:g.72916317G>A , CM000679.1:g.72916317G>A	GRCh37
NC_000017.9:g.70427912G>A	NCBI36
NG_007882.1:g.8035C>T
NG_033062.1:g.948G>A
NG_007882.2:g.8042C>T
NG_033062.2:g.948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.614C>T MANE Select	ENSP00000480279.1:p.Thr205Met
ENST00000579243.1:c.*213C>T	ENSP00000462568.1:n.*213C>T
ENST00000614341.4:c.614C>T	ENSP00000480279.1:p.Thr205Met
NM_001282489.2:c.305C>T	NP_001269418.1:p.Thr102Met
NM_173477.4:c.614C>T	NP_775748.2:p.Thr205Met
XM_011524296.1:c.305C>T	XP_011522598.1:p.Thr102Met
XM_011524296.2:c.305C>T	XP_011522598.1:p.Thr102Met
NM_173477.5:c.614C>T MANE Select	NP_775748.2:p.Thr205Met
NM_001282489.3:c.305C>T	NP_001269418.1:p.Thr102Met