Canonical Allele Identifier: CA293983674
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs375322161

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919749G>T , CM000679.2:g.74919749G>T GRCh38
NC_000017.10:g.72915844G>T , CM000679.1:g.72915844G>T GRCh37
NC_000017.9:g.70427439G>T NCBI36
NG_007882.1:g.8508C>A
NG_033062.1:g.475G>T
NG_007882.2:g.8515C>A
NG_033062.2:g.475G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1087C>A MANE Select ENSP00000480279.1:p.Leu363Met
ENST00000579243.1:c.*686C>A ENSP00000462568.1:n.*686C>A
ENST00000614341.4:c.1087C>A ENSP00000480279.1:p.Leu363Met
NM_001282489.2:c.778C>A NP_001269418.1:p.Leu260Met
NM_173477.4:c.1087C>A NP_775748.2:p.Leu363Met
XM_011524296.1:c.778C>A XP_011522598.1:p.Leu260Met
XM_011524296.2:c.778C>A XP_011522598.1:p.Leu260Met
NM_173477.5:c.1087C>A MANE Select NP_775748.2:p.Leu363Met
NM_001282489.3:c.778C>A NP_001269418.1:p.Leu260Met