Canonical Allele Identifier: CA2275254096
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs2038880538

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917311A>C , CM000679.2:g.74917311A>C GRCh38
NC_000017.10:g.72913405A>C , CM000679.1:g.72913405A>C GRCh37
NC_000017.9:g.70425000A>C NCBI36
NG_007882.1:g.10947T>G
NG_007882.2:g.10953T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*762T>G MANE Select ENSP00000480279.1:n.*762T>G
ENST00000614341.4:c.*762T>G ENSP00000480279.1:n.*762T>G
NM_001282489.2:c.*762T>G NP_001269418.1:n.*762T>G
NM_173477.4:c.*762T>G NP_775748.2:n.*762T>G
XM_011524296.1:c.*762T>G XP_011522598.1:n.*762T>G
XM_011524296.2:c.*762T>G XP_011522598.1:n.*762T>G
NM_173477.5:c.*762T>G MANE Select NP_775748.2:n.*762T>G
NM_001282489.3:c.*762T>G NP_001269418.1:n.*762T>G