Canonical Allele Identifier: CA400964148
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74920190T>A , CM000679.2:g.74920190T>A GRCh38
NC_000017.10:g.72916285T>A , CM000679.1:g.72916285T>A GRCh37
NC_000017.9:g.70427880T>A NCBI36
NG_007882.1:g.8067A>T
NG_033062.1:g.916T>A
NG_007882.2:g.8074A>T
NG_033062.2:g.916T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.646A>T MANE Select ENSP00000480279.1:p.Met216Leu
ENST00000579243.1:c.*245A>T ENSP00000462568.1:n.*245A>T
ENST00000614341.4:c.646A>T ENSP00000480279.1:p.Met216Leu
NM_001282489.2:c.337A>T NP_001269418.1:p.Met113Leu
NM_173477.4:c.646A>T NP_775748.2:p.Met216Leu
XM_011524296.1:c.337A>T XP_011522598.1:p.Met113Leu
XM_011524296.2:c.337A>T XP_011522598.1:p.Met113Leu
NM_173477.5:c.646A>T MANE Select NP_775748.2:p.Met216Leu
NM_001282489.3:c.337A>T NP_001269418.1:p.Met113Leu