Canonical Allele Identifier: CA400964020

Gene: USH1G

Linked Data

• dbSNP Id: rs1003052325
• gnomAD v3: 17-74920171-C-G
• gnomAD v4: 17-74920171-C-G
• MyVariant Identifiers: chr17:g.72916266C>G (hg19) ; chr17:g.74920171C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920171C>G , CM000679.2:g.74920171C>G	GRCh38
NC_000017.10:g.72916266C>G , CM000679.1:g.72916266C>G	GRCh37
NC_000017.9:g.70427861C>G	NCBI36
NG_007882.1:g.8086G>C
NG_033062.1:g.897C>G
NG_007882.2:g.8093G>C
NG_033062.2:g.897C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.665G>C MANE Select	ENSP00000480279.1:p.Arg222Pro
ENST00000579243.1:c.*264G>C	ENSP00000462568.1:n.*264G>C
ENST00000614341.4:c.665G>C	ENSP00000480279.1:p.Arg222Pro
NM_001282489.2:c.356G>C	NP_001269418.1:p.Arg119Pro
NM_173477.4:c.665G>C	NP_775748.2:p.Arg222Pro
XM_011524296.1:c.356G>C	XP_011522598.1:p.Arg119Pro
XM_011524296.2:c.356G>C	XP_011522598.1:p.Arg119Pro
NM_173477.5:c.665G>C MANE Select	NP_775748.2:p.Arg222Pro
NM_001282489.3:c.356G>C	NP_001269418.1:p.Arg119Pro