Canonical Allele Identifier: CA400963072

Gene: USH1G

Linked Data

• dbSNP Id: rs2038917622
• gnomAD v4: 17-74920010-A-G
• MyVariant Identifiers: chr17:g.72916105A>G (hg19) ; chr17:g.74920010A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920010A>G , CM000679.2:g.74920010A>G	GRCh38
NC_000017.10:g.72916105A>G , CM000679.1:g.72916105A>G	GRCh37
NC_000017.9:g.70427700A>G	NCBI36
NG_007882.1:g.8247T>C
NG_033062.1:g.736A>G
NG_007882.2:g.8254T>C
NG_033062.2:g.736A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.826T>C MANE Select	ENSP00000480279.1:p.Phe276Leu
ENST00000579243.1:c.*425T>C	ENSP00000462568.1:n.*425T>C
ENST00000614341.4:c.826T>C	ENSP00000480279.1:p.Phe276Leu
NM_001282489.2:c.517T>C	NP_001269418.1:p.Phe173Leu
NM_173477.4:c.826T>C	NP_775748.2:p.Phe276Leu
XM_011524296.1:c.517T>C	XP_011522598.1:p.Phe173Leu
XM_011524296.2:c.517T>C	XP_011522598.1:p.Phe173Leu
NM_173477.5:c.826T>C MANE Select	NP_775748.2:p.Phe276Leu
NM_001282489.3:c.517T>C	NP_001269418.1:p.Phe173Leu