Canonical Allele Identifier: CA400961968
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919793C>G , CM000679.2:g.74919793C>G GRCh38
NC_000017.10:g.72915888C>G , CM000679.1:g.72915888C>G GRCh37
NC_000017.9:g.70427483C>G NCBI36
NG_007882.1:g.8464G>C
NG_033062.1:g.519C>G
NG_007882.2:g.8471G>C
NG_033062.2:g.519C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1043G>C MANE Select ENSP00000480279.1:p.Ser348Thr
ENST00000579243.1:c.*642G>C ENSP00000462568.1:n.*642G>C
ENST00000614341.4:c.1043G>C ENSP00000480279.1:p.Ser348Thr
NM_001282489.2:c.734G>C NP_001269418.1:p.Ser245Thr
NM_173477.4:c.1043G>C NP_775748.2:p.Ser348Thr
XM_011524296.1:c.734G>C XP_011522598.1:p.Ser245Thr
XM_011524296.2:c.734G>C XP_011522598.1:p.Ser245Thr
NM_173477.5:c.1043G>C MANE Select NP_775748.2:p.Ser348Thr
NM_001282489.3:c.734G>C NP_001269418.1:p.Ser245Thr