Canonical Allele Identifier: CA8753896

Gene: USH1G

Linked Data

• dbSNP Id: rs368110384
• ExAC: 17:72915652 G / A
• gnomAD v2: 17-72915652-G-A
• gnomAD v3: 17-74919557-G-A
• gnomAD v4: 17-74919557-G-A
• MyVariant Identifiers: chr17:g.72915652G>A (hg19) ; chr17:g.74919557G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919557G>A , CM000679.2:g.74919557G>A	GRCh38
NC_000017.10:g.72915652G>A , CM000679.1:g.72915652G>A	GRCh37
NC_000017.9:g.70427247G>A	NCBI36
NG_007882.1:g.8700C>T
NG_033062.1:g.283G>A
NG_007882.2:g.8707C>T
NG_033062.2:g.283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1279C>T MANE Select	ENSP00000480279.1:p.Arg427Cys
ENST00000579243.1:c.*878C>T	ENSP00000462568.1:n.*878C>T
ENST00000614341.4:c.1279C>T	ENSP00000480279.1:p.Arg427Cys
NM_001282489.2:c.970C>T	NP_001269418.1:p.Arg324Cys
NM_173477.4:c.1279C>T	NP_775748.2:p.Arg427Cys
XM_011524296.1:c.970C>T	XP_011522598.1:p.Arg324Cys
XM_011524296.2:c.970C>T	XP_011522598.1:p.Arg324Cys
NM_173477.5:c.1279C>T MANE Select	NP_775748.2:p.Arg427Cys
NM_001282489.3:c.970C>T	NP_001269418.1:p.Arg324Cys