Canonical Allele Identifier: CA473305258

Gene: USH1C

Linked Data

• ClinVar Variation Id: 1158910
• ClinVar RCV Id: RCV001502498
• dbSNP Id: rs2133783771
• MyVariant Identifiers: chr11:g.17522611A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501064A>G , CM000673.2:g.17501064A>G	GRCh38
NC_000011.9:g.17522611A>G , CM000673.1:g.17522611A>G	GRCh37
NC_000011.8:g.17479187A>G	NCBI36
NG_011883.1:g.48353T>C
NG_011883.2:g.48353T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2367T>C MANE Select	ENSP00000005226.7:p.Ala789=
ENST00000318024.9:c.1467T>C MANE Plus Clinical	ENSP00000317018.4:p.Ala489=
ENST00000005226.11:c.2367T>C	ENSP00000005226.7:p.Ala789=
ENST00000318024.8:c.1467T>C	ENSP00000317018.4:p.Ala489=
ENST00000526313.5:c.*181T>C	ENSP00000432236.1:n.*181T>C
ENST00000527020.5:c.1410T>C	ENSP00000436934.1:p.Ala470=
ENST00000527720.5:c.1374T>C	ENSP00000432944.1:p.Ala458=
ENST00000529563.5:n.351T>C
NM_001297764.1:c.1410T>C	NP_001284693.1:p.Ala470=
NM_005709.3:c.1467T>C	NP_005700.2:p.Ala489=
NM_153676.3:c.2367T>C	NP_710142.1:p.Ala789=
NR_123738.1:n.1502T>C
XM_011519831.1:c.2391T>C	XP_011518133.1:p.Ala797=
XM_011519832.1:c.1620T>C	XP_011518134.1:p.Ala540=
XM_011519833.1:c.*74T>C	XP_011518135.1:n.*74T>C
XR_930841.1:n.1838T>C
XR_930842.1:n.1779T>C
XM_011519832.3:c.1620T>C	XP_011518134.1:p.Ala540=
XM_017017075.1:c.2367T>C	XP_016872564.1:p.Ala789=
XR_001747717.2:n.1626T>C
NM_153676.4:c.2367T>C MANE Select	NP_710142.1:p.Ala789=
NM_001297764.2:c.1410T>C	NP_001284693.1:p.Ala470=
NM_005709.4:c.1467T>C MANE Plus Clinical	NP_005700.2:p.Ala489=
NR_123738.2:n.1502T>C