Canonical Allele Identifier: CA2275254161
Gene: USH1G HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917459G= , CM000679.2:g.74917459G= GRCh38
NC_000017.10:g.72913553G= , CM000679.1:g.72913553G= GRCh37
NC_000017.9:g.70425148G= NCBI36
NG_007882.1:g.10799C=
NG_007882.2:g.10805C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*614C= MANE Select ENSP00000480279.1:n.*614C=
ENST00000614341.4:c.*614C= ENSP00000480279.1:n.*614C=
NM_001282489.2:c.*614C= NP_001269418.1:n.*614C=
NM_173477.4:c.*614C= NP_775748.2:n.*614C=
XM_011524296.1:c.*614C= XP_011522598.1:n.*614C=
XM_011524296.2:c.*614C= XP_011522598.1:n.*614C=
NM_173477.5:c.*614C= MANE Select NP_775748.2:n.*614C=
NM_001282489.3:c.*614C= NP_001269418.1:n.*614C=