Canonical Allele Identifier: CA2639744002
Gene: USH1G HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917480G>T , CM000679.2:g.74917480G>T GRCh38
NC_000017.10:g.72913574G>T , CM000679.1:g.72913574G>T GRCh37
NC_000017.9:g.70425169G>T NCBI36
NG_007882.1:g.10778C>A
NG_007882.2:g.10784C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*593C>A MANE Select ENSP00000480279.1:n.*593C>A
ENST00000614341.4:c.*593C>A ENSP00000480279.1:n.*593C>A
NM_001282489.2:c.*593C>A NP_001269418.1:n.*593C>A
NM_173477.4:c.*593C>A NP_775748.2:n.*593C>A
XM_011524296.1:c.*593C>A XP_011522598.1:n.*593C>A
XM_011524296.2:c.*593C>A XP_011522598.1:n.*593C>A
NM_173477.5:c.*593C>A MANE Select NP_775748.2:n.*593C>A
NM_001282489.3:c.*593C>A NP_001269418.1:n.*593C>A