Canonical Allele Identifier: CA252487
Gene: USH1G HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2914
ClinVar RCV Id: RCV000003048
dbSNP Id: rs104894651

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74922931A>G , CM000679.2:g.74922931A>G GRCh38
NC_000017.10:g.72919026A>G , CM000679.1:g.72919026A>G GRCh37
NC_000017.9:g.70430621A>G NCBI36
NG_007882.1:g.5326T>C
NG_033062.1:g.3657A>G
NG_007882.2:g.5333T>C
NG_033062.2:g.3657A>G

Transcript Alleles

HGVS Amino-acid change
NM_001282489.2:c.-114T>C VV NP_001269418.1:p.=
NM_173477.4:c.143T>C VV NP_775748.2:p.Leu48Pro
NM_173477.5:c.143T>C VV MANE Preferred
ENST00000579243.1:c.143T>C ENSP00000462568.1:p.Leu48Pro
ENST00000614341.4:c.143T>C ENSP00000480279.1:p.Leu48Pro