Canonical Allele Identifier: CA400961713

Gene: USH1G

Linked Data

• ClinVar Variation Id: 3187050
• ClinVar RCV Id: RCV004484414
• dbSNP Id: rs2038911301
• MyVariant Identifiers: chr17:g.72915828C>T (hg19) ; chr17:g.74919733C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919733C>T , CM000679.2:g.74919733C>T	GRCh38
NC_000017.10:g.72915828C>T , CM000679.1:g.72915828C>T	GRCh37
NC_000017.9:g.70427423C>T	NCBI36
NG_007882.1:g.8524G>A
NG_033062.1:g.459C>T
NG_007882.2:g.8531G>A
NG_033062.2:g.459C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1103G>A MANE Select	ENSP00000480279.1:p.Cys368Tyr
ENST00000579243.1:c.*702G>A	ENSP00000462568.1:n.*702G>A
ENST00000614341.4:c.1103G>A	ENSP00000480279.1:p.Cys368Tyr
NM_001282489.2:c.794G>A	NP_001269418.1:p.Cys265Tyr
NM_173477.4:c.1103G>A	NP_775748.2:p.Cys368Tyr
XM_011524296.1:c.794G>A	XP_011522598.1:p.Cys265Tyr
XM_011524296.2:c.794G>A	XP_011522598.1:p.Cys265Tyr
NM_173477.5:c.1103G>A MANE Select	NP_775748.2:p.Cys368Tyr
NM_001282489.3:c.794G>A	NP_001269418.1:p.Cys265Tyr