Canonical Allele Identifier: CA293981870
Gene: USH1G HGNC NCBI

Linked Data

ClinVar Variation Id: 891588
ClinVar RCV Id: RCV001126969
dbSNP Id: rs55847044

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917297C>T , CM000679.2:g.74917297C>T GRCh38
NC_000017.10:g.72913391C>T , CM000679.1:g.72913391C>T GRCh37
NC_000017.9:g.70424986C>T NCBI36
NG_007882.1:g.10961G>A
NG_007882.2:g.10967G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*776G>A MANE Select ENSP00000480279.1:n.*776G>A
ENST00000614341.4:c.*776G>A ENSP00000480279.1:n.*776G>A
NM_001282489.2:c.*776G>A NP_001269418.1:n.*776G>A
NM_173477.4:c.*776G>A NP_775748.2:n.*776G>A
XM_011524296.1:c.*776G>A XP_011522598.1:n.*776G>A
XM_011524296.2:c.*776G>A XP_011522598.1:n.*776G>A
NM_173477.5:c.*776G>A MANE Select NP_775748.2:n.*776G>A
NM_001282489.3:c.*776G>A NP_001269418.1:n.*776G>A