Canonical Allele Identifier: CA379802919

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17522609G>T (hg19) ; chr11:g.17501062G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501062G>T , CM000673.2:g.17501062G>T	GRCh38
NC_000011.9:g.17522609G>T , CM000673.1:g.17522609G>T	GRCh37
NC_000011.8:g.17479185G>T	NCBI36
NG_011883.1:g.48355C>A
NG_011883.2:g.48355C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2369C>A MANE Select	ENSP00000005226.7:p.Ala790Asp
ENST00000318024.9:c.1469C>A MANE Plus Clinical	ENSP00000317018.4:p.Ala490Asp
ENST00000005226.11:c.2369C>A	ENSP00000005226.7:p.Ala790Asp
ENST00000318024.8:c.1469C>A	ENSP00000317018.4:p.Ala490Asp
ENST00000526313.5:c.*183C>A	ENSP00000432236.1:n.*183C>A
ENST00000527020.5:c.1412C>A	ENSP00000436934.1:p.Ala471Asp
ENST00000527720.5:c.1376C>A	ENSP00000432944.1:p.Ala459Asp
ENST00000529563.5:n.353C>A
NM_001297764.1:c.1412C>A	NP_001284693.1:p.Ala471Asp
NM_005709.3:c.1469C>A	NP_005700.2:p.Ala490Asp
NM_153676.3:c.2369C>A	NP_710142.1:p.Ala790Asp
NR_123738.1:n.1504C>A
XM_011519831.1:c.2393C>A	XP_011518133.1:p.Ala798Asp
XM_011519832.1:c.1622C>A	XP_011518134.1:p.Ala541Asp
XM_011519833.1:c.*76C>A	XP_011518135.1:n.*76C>A
XR_930841.1:n.1840C>A
XR_930842.1:n.1781C>A
XM_011519832.3:c.1622C>A	XP_011518134.1:p.Ala541Asp
XM_017017075.1:c.2369C>A	XP_016872564.1:p.Ala790Asp
XR_001747717.2:n.1628C>A
NM_153676.4:c.2369C>A MANE Select	NP_710142.1:p.Ala790Asp
NM_001297764.2:c.1412C>A	NP_001284693.1:p.Ala471Asp
NM_005709.4:c.1469C>A MANE Plus Clinical	NP_005700.2:p.Ala490Asp
NR_123738.2:n.1504C>A