Canonical Allele Identifier: CA400962947

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1375376
• ClinVar RCV Id: RCV001883331
• dbSNP Id: rs1329441112
• MyVariant Identifiers: chr17:g.72916080G>C (hg19) ; chr17:g.74919985G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919985G>C , CM000679.2:g.74919985G>C	GRCh38
NC_000017.10:g.72916080G>C , CM000679.1:g.72916080G>C	GRCh37
NC_000017.9:g.70427675G>C	NCBI36
NG_007882.1:g.8272C>G
NG_033062.1:g.711G>C
NG_007882.2:g.8279C>G
NG_033062.2:g.711G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.851C>G MANE Select	ENSP00000480279.1:p.Ser284Cys
ENST00000579243.1:c.*450C>G	ENSP00000462568.1:n.*450C>G
ENST00000614341.4:c.851C>G	ENSP00000480279.1:p.Ser284Cys
NM_001282489.2:c.542C>G	NP_001269418.1:p.Ser181Cys
NM_173477.4:c.851C>G	NP_775748.2:p.Ser284Cys
XM_011524296.1:c.542C>G	XP_011522598.1:p.Ser181Cys
XM_011524296.2:c.542C>G	XP_011522598.1:p.Ser181Cys
NM_173477.5:c.851C>G MANE Select	NP_775748.2:p.Ser284Cys
NM_001282489.3:c.542C>G	NP_001269418.1:p.Ser181Cys