Canonical Allele Identifier: CA2734171360
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs2144748641
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917302C>T , CM000679.2:g.74917302C>T GRCh38
NC_000017.10:g.72913396C>T , CM000679.1:g.72913396C>T GRCh37
NC_000017.9:g.70424991C>T NCBI36
NG_007882.1:g.10956G>A
NG_007882.2:g.10962G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*771G>A MANE Select ENSP00000480279.1:n.*771G>A
ENST00000614341.4:c.*771G>A ENSP00000480279.1:n.*771G>A
NM_001282489.2:c.*771G>A NP_001269418.1:n.*771G>A
NM_173477.4:c.*771G>A NP_775748.2:n.*771G>A
XM_011524296.1:c.*771G>A XP_011522598.1:n.*771G>A
XM_011524296.2:c.*771G>A XP_011522598.1:n.*771G>A
NM_173477.5:c.*771G>A MANE Select NP_775748.2:n.*771G>A
NM_001282489.3:c.*771G>A NP_001269418.1:n.*771G>A
Search 100 bp 5'
Search 100 bp 3'