Canonical Allele Identifier: CA8753894

Gene: USH1G

Linked Data

• dbSNP Id: rs757101131
• ExAC: 17:72915645 A / C
• gnomAD v2: 17-72915645-A-C
• gnomAD v3: 17-74919550-A-C
• gnomAD v4: 17-74919550-A-C
• MyVariant Identifiers: chr17:g.72915645A>C (hg19) ; chr17:g.74919550A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919550A>C , CM000679.2:g.74919550A>C	GRCh38
NC_000017.10:g.72915645A>C , CM000679.1:g.72915645A>C	GRCh37
NC_000017.9:g.70427240A>C	NCBI36
NG_007882.1:g.8707T>G
NG_033062.1:g.276A>C
NG_007882.2:g.8714T>G
NG_033062.2:g.276A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1286T>G MANE Select	ENSP00000480279.1:p.Ile429Ser
ENST00000579243.1:c.*885T>G	ENSP00000462568.1:n.*885T>G
ENST00000614341.4:c.1286T>G	ENSP00000480279.1:p.Ile429Ser
NM_001282489.2:c.977T>G	NP_001269418.1:p.Ile326Ser
NM_173477.4:c.1286T>G	NP_775748.2:p.Ile429Ser
XM_011524296.1:c.977T>G	XP_011522598.1:p.Ile326Ser
XM_011524296.2:c.977T>G	XP_011522598.1:p.Ile326Ser
NM_173477.5:c.1286T>G MANE Select	NP_775748.2:p.Ile429Ser
NM_001282489.3:c.977T>G	NP_001269418.1:p.Ile326Ser