Canonical Allele Identifier: CA775051696
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs1209166693

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917321A>G , CM000679.2:g.74917321A>G GRCh38
NC_000017.10:g.72913415A>G , CM000679.1:g.72913415A>G GRCh37
NC_000017.9:g.70425010A>G NCBI36
NG_007882.1:g.10937T>C
NG_007882.2:g.10943T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*752T>C MANE Select ENSP00000480279.1:n.*752T>C
ENST00000614341.4:c.*752T>C ENSP00000480279.1:n.*752T>C
NM_001282489.2:c.*752T>C NP_001269418.1:n.*752T>C
NM_173477.4:c.*752T>C NP_775748.2:n.*752T>C
XM_011524296.1:c.*752T>C XP_011522598.1:n.*752T>C
XM_011524296.2:c.*752T>C XP_011522598.1:n.*752T>C
NM_173477.5:c.*752T>C MANE Select NP_775748.2:n.*752T>C
NM_001282489.3:c.*752T>C NP_001269418.1:n.*752T>C