Canonical Allele Identifier: CA2639748389
Gene: USH1G HGNC NCBI

Linked Data

gnomAD v4: 17-74922861-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74922861T>G , CM000679.2:g.74922861T>G GRCh38
NC_000017.10:g.72918956T>G , CM000679.1:g.72918956T>G GRCh37
NC_000017.9:g.70430551T>G NCBI36
NG_007882.1:g.5396A>C
NG_033062.1:g.3587T>G
NG_007882.2:g.5403A>C
NG_033062.2:g.3587T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.164+49A>C MANE Select ENSP00000480279.1:n.164+49A>C
ENST00000579243.1:c.164+49A>C ENSP00000462568.1:n.164+49A>C
ENST00000614341.4:c.164+49A>C ENSP00000480279.1:n.164+49A>C
NM_001282489.2:c.-93+49A>C NP_001269418.1:n.-93+49A>C
NM_173477.4:c.164+49A>C NP_775748.2:n.164+49A>C
XM_011524296.1:c.-431A>C XP_011522598.1:n.-431A>C
XM_011524296.2:c.-431A>C XP_011522598.1:n.-431A>C
NM_173477.5:c.164+49A>C MANE Select NP_775748.2:n.164+49A>C
NM_001282489.3:c.-93+49A>C NP_001269418.1:n.-93+49A>C
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