Canonical Allele Identifier: CA1955169930
Gene: USH1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17494457G= , CM000673.2:g.17494457G= GRCh38
NC_000011.9:g.17516004G= , CM000673.1:g.17516004G= GRCh37
NC_000011.8:g.17472580G= NCBI36
NG_011883.1:g.54960C=
NG_011883.2:g.54960C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000005226.12:c.2656-81C= MANE Select ENSP00000005226.7:n.2656-81C=
ENST00000318024.9:c.1647-81C= MANE Plus Clinical ENSP00000317018.4:n.1647-81C=
ENST00000005226.11:c.2656-81C= ENSP00000005226.7:n.2656-81C=
ENST00000318024.8:c.1647-81C= ENSP00000317018.4:n.1647-81C=
ENST00000526313.5:c.*361-81C= ENSP00000432236.1:n.*361-81C=
ENST00000527020.5:c.1590-81C= ENSP00000436934.1:n.1590-81C=
ENST00000527551.1:n.157-81C=
ENST00000527720.5:c.1554-81C= ENSP00000432944.1:n.1554-81C=
ENST00000529563.5:n.531-81C=
ENST00000624811.1:n.637C=
NM_001297764.1:c.1590-81C= NP_001284693.1:n.1590-81C=
NM_005709.3:c.1647-81C= NP_005700.2:n.1647-81C=
NM_153676.3:c.2656-81C= NP_710142.1:n.2656-81C=
NR_123738.1:n.1682-81C=
XM_011519831.1:c.2571-81C= XP_011518133.1:n.2571-81C=
XM_011519832.1:c.1800-81C= XP_011518134.1:n.1800-81C=
XM_011519832.3:c.1800-81C= XP_011518134.1:n.1800-81C=
XM_017017075.1:c.*896C= XP_016872564.1:n.*896C=
XR_001747717.2:n.1806-81C=
NM_153676.4:c.2656-81C= MANE Select NP_710142.1:n.2656-81C=
NM_001297764.2:c.1590-81C= NP_001284693.1:n.1590-81C=
NM_005709.4:c.1647-81C= MANE Plus Clinical NP_005700.2:n.1647-81C=
NR_123738.2:n.1682-81C=