Canonical Allele Identifier: CA473305399

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17523047C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501500C>G , CM000673.2:g.17501500C>G	GRCh38
NC_000011.9:g.17523047C>G , CM000673.1:g.17523047C>G	GRCh37
NC_000011.8:g.17479623C>G	NCBI36
NG_011883.1:g.47917G>C
NG_011883.2:g.47917G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2262G>C MANE Select	ENSP00000005226.7:p.Arg754=
ENST00000318024.9:c.1362G>C MANE Plus Clinical	ENSP00000317018.4:p.Arg454=
ENST00000005226.11:c.2262G>C	ENSP00000005226.7:p.Arg754=
ENST00000318024.8:c.1362G>C	ENSP00000317018.4:p.Arg454=
ENST00000526313.5:c.*76G>C	ENSP00000432236.1:n.*76G>C
ENST00000527020.5:c.1305G>C	ENSP00000436934.1:p.Arg435=
ENST00000527720.5:c.1269G>C	ENSP00000432944.1:p.Arg423=
ENST00000529563.5:n.246G>C
ENST00000534556.1:n.147G>C
NM_001297764.1:c.1305G>C	NP_001284693.1:p.Arg435=
NM_005709.3:c.1362G>C	NP_005700.2:p.Arg454=
NM_153676.3:c.2262G>C	NP_710142.1:p.Arg754=
NR_123738.1:n.1397G>C
XM_011519831.1:c.2286G>C	XP_011518133.1:p.Arg762=
XM_011519832.1:c.1515G>C	XP_011518134.1:p.Arg505=
XM_011519833.1:c.1412G>C	XP_011518135.1:p.Gly471Ala
XR_930841.1:n.1733G>C
XR_930842.1:n.1674G>C
XM_011519832.3:c.1515G>C	XP_011518134.1:p.Arg505=
XM_017017075.1:c.2262G>C	XP_016872564.1:p.Arg754=
XR_001747717.2:n.1521G>C
NM_153676.4:c.2262G>C MANE Select	NP_710142.1:p.Arg754=
NM_001297764.2:c.1305G>C	NP_001284693.1:p.Arg435=
NM_005709.4:c.1362G>C MANE Plus Clinical	NP_005700.2:p.Arg454=
NR_123738.2:n.1397G>C