Canonical Allele Identifier: CA183405
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 178968
dbSNP Id: rs569032124

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74919684G>A , CM000679.2:g.74919684G>A GRCh38
NC_000017.10:g.72915779G>A , CM000679.1:g.72915779G>A GRCh37
NC_000017.9:g.70427374G>A NCBI36
NG_007882.1:g.8573C>T
NG_033062.1:g.410G>A
NG_007882.2:g.8580C>T
NG_033062.2:g.410G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.1152C>T MANE Select ENSP00000480279.1:p.Asp384=
ENST00000579243.1:c.*751C>T ENSP00000462568.1:n.*751C>T
ENST00000614341.4:c.1152C>T ENSP00000480279.1:p.Asp384=
NM_001282489.2:c.843C>T NP_001269418.1:p.Asp281=
NM_173477.4:c.1152C>T NP_775748.2:p.Asp384=
XM_011524296.1:c.843C>T XP_011522598.1:p.Asp281=
XM_011524296.2:c.843C>T XP_011522598.1:p.Asp281=
NM_173477.5:c.1152C>T MANE Select NP_775748.2:p.Asp384=
NM_001282489.3:c.843C>T NP_001269418.1:p.Asp281=