Canonical Allele Identifier: CA400964197
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920195G>C , CM000679.2:g.74920195G>C GRCh38
NC_000017.10:g.72916290G>C , CM000679.1:g.72916290G>C GRCh37
NC_000017.9:g.70427885G>C NCBI36
NG_007882.1:g.8062C>G
NG_033062.1:g.921G>C
NG_007882.2:g.8069C>G
NG_033062.2:g.921G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.641C>G MANE Select ENSP00000480279.1:p.Thr214Ser
ENST00000579243.1:c.*240C>G ENSP00000462568.1:n.*240C>G
ENST00000614341.4:c.641C>G ENSP00000480279.1:p.Thr214Ser
NM_001282489.2:c.332C>G NP_001269418.1:p.Thr111Ser
NM_173477.4:c.641C>G NP_775748.2:p.Thr214Ser
XM_011524296.1:c.332C>G XP_011522598.1:p.Thr111Ser
XM_011524296.2:c.332C>G XP_011522598.1:p.Thr111Ser
NM_173477.5:c.641C>G MANE Select NP_775748.2:p.Thr214Ser
NM_001282489.3:c.332C>G NP_001269418.1:p.Thr111Ser