Canonical Allele Identifier: CA8753905

Gene: USH1G

Linked Data

• dbSNP Id: rs766986350
• ExAC: 17:72915692 G / C
• gnomAD v2: 17-72915692-G-C
• gnomAD v3: 17-74919597-G-C
• gnomAD v4: 17-74919597-G-C
• MyVariant Identifiers: chr17:g.72915692G>C (hg19) ; chr17:g.74919597G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919597G>C , CM000679.2:g.74919597G>C	GRCh38
NC_000017.10:g.72915692G>C , CM000679.1:g.72915692G>C	GRCh37
NC_000017.9:g.70427287G>C	NCBI36
NG_007882.1:g.8660C>G
NG_033062.1:g.323G>C
NG_007882.2:g.8667C>G
NG_033062.2:g.323G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1239C>G MANE Select	ENSP00000480279.1:p.Ile413Met
ENST00000579243.1:c.*838C>G	ENSP00000462568.1:n.*838C>G
ENST00000614341.4:c.1239C>G	ENSP00000480279.1:p.Ile413Met
NM_001282489.2:c.930C>G	NP_001269418.1:p.Ile310Met
NM_173477.4:c.1239C>G	NP_775748.2:p.Ile413Met
XM_011524296.1:c.930C>G	XP_011522598.1:p.Ile310Met
XM_011524296.2:c.930C>G	XP_011522598.1:p.Ile310Met
NM_173477.5:c.1239C>G MANE Select	NP_775748.2:p.Ile413Met
NM_001282489.3:c.930C>G	NP_001269418.1:p.Ile310Met