Canonical Allele Identifier: CA2639739204
Gene: USH1G HGNC NCBI

Linked Data

gnomAD v4: 17-74916264-A-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74916264A>C , CM000679.2:g.74916264A>C GRCh38
NC_000017.10:g.72912356A>C , CM000679.1:g.72912356A>C GRCh37
NC_000017.9:g.70423951A>C NCBI36
NG_007882.1:g.11996T>G
NG_007882.2:g.12000T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.*1809T>G MANE Select ENSP00000480279.1:n.*1809T>G
ENST00000614341.4:c.*1809T>G ENSP00000480279.1:n.*1809T>G
NM_001282489.2:c.*1809T>G NP_001269418.1:n.*1809T>G
NM_173477.4:c.*1809T>G NP_775748.2:n.*1809T>G
XM_011524296.1:c.*1809T>G XP_011522598.1:n.*1809T>G
XM_011524296.2:c.*1809T>G XP_011522598.1:n.*1809T>G
NM_173477.5:c.*1809T>G MANE Select NP_775748.2:n.*1809T>G
NM_001282489.3:c.*1809T>G NP_001269418.1:n.*1809T>G
Search 100 bp 5'
Search 100 bp 3'