Canonical Allele Identifier: CA293981808
Gene: USH1G HGNC NCBI

Linked Data

dbSNP Id: rs146007618
gnomAD v2: 17-72913335-C-A
gnomAD v3: 17-74917241-C-A
gnomAD v4: 17-74917241-C-A
MyVariant Identifiers: chr17:g.72913335C>A (hg19) chr17:g.74917241C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.74917241C>A , CM000679.2:g.74917241C>A GRCh38
NC_000017.10:g.72913335C>A , CM000679.1:g.72913335C>A GRCh37
NC_000017.9:g.70424930C>A NCBI36
NG_007882.1:g.11017G>T
NG_007882.2:g.11023G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614341.5:c.*832G>T MANE Select ENSP00000480279.1:n.*832G>T
ENST00000614341.4:c.*832G>T ENSP00000480279.1:n.*832G>T
NM_001282489.2:c.*832G>T NP_001269418.1:n.*832G>T
NM_173477.4:c.*832G>T NP_775748.2:n.*832G>T
XM_011524296.1:c.*832G>T XP_011522598.1:n.*832G>T
XM_011524296.2:c.*832G>T XP_011522598.1:n.*832G>T
NM_173477.5:c.*832G>T MANE Select NP_775748.2:n.*832G>T
NM_001282489.3:c.*832G>T NP_001269418.1:n.*832G>T
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