Canonical Allele Identifier: CA400961676

Gene: USH1G

Linked Data

• dbSNP Id: rs1319171856
• gnomAD v3: 17-74919725-C-G
• gnomAD v4: 17-74919725-C-G
• MyVariant Identifiers: chr17:g.72915820C>G (hg19) ; chr17:g.74919725C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919725C>G , CM000679.2:g.74919725C>G	GRCh38
NC_000017.10:g.72915820C>G , CM000679.1:g.72915820C>G	GRCh37
NC_000017.9:g.70427415C>G	NCBI36
NG_007882.1:g.8532G>C
NG_033062.1:g.451C>G
NG_007882.2:g.8539G>C
NG_033062.2:g.451C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1111G>C MANE Select	ENSP00000480279.1:p.Glu371Gln
ENST00000579243.1:c.*710G>C	ENSP00000462568.1:n.*710G>C
ENST00000614341.4:c.1111G>C	ENSP00000480279.1:p.Glu371Gln
NM_001282489.2:c.802G>C	NP_001269418.1:p.Glu268Gln
NM_173477.4:c.1111G>C	NP_775748.2:p.Glu371Gln
XM_011524296.1:c.802G>C	XP_011522598.1:p.Glu268Gln
XM_011524296.2:c.802G>C	XP_011522598.1:p.Glu268Gln
NM_173477.5:c.1111G>C MANE Select	NP_775748.2:p.Glu371Gln
NM_001282489.3:c.802G>C	NP_001269418.1:p.Glu268Gln