Canonical Allele Identifier: CA2639748369
Gene: USH1G HGNC NCBI

Linked Data

gnomAD v4: 17-74922845-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74922845G>T , CM000679.2:g.74922845G>T GRCh38
NC_000017.10:g.72918940G>T , CM000679.1:g.72918940G>T GRCh37
NC_000017.9:g.70430535G>T NCBI36
NG_007882.1:g.5412C>A
NG_033062.1:g.3571G>T
NG_007882.2:g.5419C>A
NG_033062.2:g.3571G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000614341.5:c.164+65C>A MANE Select ENSP00000480279.1:n.164+65C>A
ENST00000579243.1:c.164+65C>A ENSP00000462568.1:n.164+65C>A
ENST00000614341.4:c.164+65C>A ENSP00000480279.1:n.164+65C>A
NM_001282489.2:c.-93+65C>A NP_001269418.1:n.-93+65C>A
NM_173477.4:c.164+65C>A NP_775748.2:n.164+65C>A
XM_011524296.1:c.-415C>A XP_011522598.1:n.-415C>A
XM_011524296.2:c.-415C>A XP_011522598.1:n.-415C>A
NM_173477.5:c.164+65C>A MANE Select NP_775748.2:n.164+65C>A
NM_001282489.3:c.-93+65C>A NP_001269418.1:n.-93+65C>A
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