Canonical Allele Identifier: CA340349
Gene: USH1C HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17531431C>T , CM000673.2:g.17531431C>T GRCh38
NC_000011.9:g.17552978C>T , CM000673.1:g.17552978C>T GRCh37
NC_000011.8:g.17509554C>T NCBI36
NG_011883.1:g.17986G>A
NG_011883.2:g.17986G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.216G>A MANE Select ENSP00000005226.7:p.Val72=
ENST00000318024.9:c.216G>A MANE Plus Clinical ENSP00000317018.4:p.Val72=
ENST00000005226.11:c.216G>A ENSP00000005226.7:p.Val72=
ENST00000318024.8:c.216G>A ENSP00000317018.4:p.Val72=
ENST00000526181.1:c.249G>A ENSP00000437128.1:p.Val83=
ENST00000526313.5:c.216G>A ENSP00000432236.1:p.Val72=
ENST00000527020.5:c.216G>A ENSP00000436934.1:p.Val72=
ENST00000527720.5:c.123G>A ENSP00000432944.1:p.Val41=
NM_001297764.1:c.216G>A NP_001284693.1:p.Val72=
NM_005709.3:c.216G>A NP_005700.2:p.Val72=
NM_153676.3:c.216G>A NP_710142.1:p.Val72=
NR_123738.1:n.325G>A
XM_011519831.1:c.216G>A XP_011518133.1:p.Val72=
XM_011519832.1:c.216G>A XP_011518134.1:p.Val72=
XM_011519833.1:c.216G>A XP_011518135.1:p.Val72=
XM_011519834.1:c.216G>A XP_011518136.1:p.Val72=
XR_930841.1:n.325G>A
XR_930842.1:n.325G>A
XM_011519832.3:c.216G>A XP_011518134.1:p.Val72=
XM_011519834.2:c.216G>A XP_011518136.1:p.Val72=
XM_017017072.1:c.216G>A XP_016872561.1:p.Val72=
XM_017017073.1:c.216G>A XP_016872562.1:p.Val72=
XM_017017074.1:c.216G>A XP_016872563.1:p.Val72=
XM_017017075.1:c.216G>A XP_016872564.1:p.Val72=
XR_001747717.2:n.325G>A
NM_153676.4:c.216G>A MANE Select NP_710142.1:p.Val72=
NM_001297764.2:c.216G>A NP_001284693.1:p.Val72=
NM_005709.4:c.216G>A MANE Plus Clinical NP_005700.2:p.Val72=
NR_123738.2:n.325G>A
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