Canonical Allele Identifier: CA400961427

Gene: USH1G

Linked Data

• dbSNP Id: rs1281459430
• gnomAD v4: 17-74919617-G-C
• MyVariant Identifiers: chr17:g.72915712G>C (hg19) ; chr17:g.74919617G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919617G>C , CM000679.2:g.74919617G>C	GRCh38
NC_000017.10:g.72915712G>C , CM000679.1:g.72915712G>C	GRCh37
NC_000017.9:g.70427307G>C	NCBI36
NG_007882.1:g.8640C>G
NG_033062.1:g.343G>C
NG_007882.2:g.8647C>G
NG_033062.2:g.343G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1219C>G MANE Select	ENSP00000480279.1:p.Leu407Val
ENST00000579243.1:c.*818C>G	ENSP00000462568.1:n.*818C>G
ENST00000614341.4:c.1219C>G	ENSP00000480279.1:p.Leu407Val
NM_001282489.2:c.910C>G	NP_001269418.1:p.Leu304Val
NM_173477.4:c.1219C>G	NP_775748.2:p.Leu407Val
XM_011524296.1:c.910C>G	XP_011522598.1:p.Leu304Val
XM_011524296.2:c.910C>G	XP_011522598.1:p.Leu304Val
NM_173477.5:c.1219C>G MANE Select	NP_775748.2:p.Leu407Val
NM_001282489.3:c.910C>G	NP_001269418.1:p.Leu304Val