Canonical Allele Identifier: CA400962629
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919932C>T , CM000679.2:g.74919932C>T GRCh38
NC_000017.10:g.72916027C>T , CM000679.1:g.72916027C>T GRCh37
NC_000017.9:g.70427622C>T NCBI36
NG_007882.1:g.8325G>A
NG_033062.1:g.658C>T
NG_007882.2:g.8332G>A
NG_033062.2:g.658C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.904G>A MANE Select ENSP00000480279.1:p.Gly302Ser
ENST00000579243.1:c.*503G>A ENSP00000462568.1:n.*503G>A
ENST00000614341.4:c.904G>A ENSP00000480279.1:p.Gly302Ser
NM_001282489.2:c.595G>A NP_001269418.1:p.Gly199Ser
NM_173477.4:c.904G>A NP_775748.2:p.Gly302Ser
XM_011524296.1:c.595G>A XP_011522598.1:p.Gly199Ser
XM_011524296.2:c.595G>A XP_011522598.1:p.Gly199Ser
NM_173477.5:c.904G>A MANE Select NP_775748.2:p.Gly302Ser
NM_001282489.3:c.595G>A NP_001269418.1:p.Gly199Ser