Canonical Allele Identifier: CA473304978

Gene: USH1C

Linked Data

• ClinVar Variation Id: 2881874
• ClinVar RCV Id: RCV003708341
• MyVariant Identifiers: chr11:g.17519784G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498237G>A , CM000673.2:g.17498237G>A	GRCh38
NC_000011.9:g.17519784G>A , CM000673.1:g.17519784G>A	GRCh37
NC_000011.8:g.17476360G>A	NCBI36
NG_011883.1:g.51180C>T
NG_011883.2:g.51180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2415C>T MANE Select	ENSP00000005226.7:p.Ile805=
ENST00000318024.9:c.1515C>T MANE Plus Clinical	ENSP00000317018.4:p.Ile505=
ENST00000005226.11:c.2415C>T	ENSP00000005226.7:p.Ile805=
ENST00000318024.8:c.1515C>T	ENSP00000317018.4:p.Ile505=
ENST00000526313.5:c.*229C>T	ENSP00000432236.1:n.*229C>T
ENST00000527020.5:c.1458C>T	ENSP00000436934.1:p.Ile486=
ENST00000527720.5:c.1422C>T	ENSP00000432944.1:p.Ile474=
ENST00000529563.5:n.399C>T
NM_001297764.1:c.1458C>T	NP_001284693.1:p.Ile486=
NM_005709.3:c.1515C>T	NP_005700.2:p.Ile505=
NM_153676.3:c.2415C>T	NP_710142.1:p.Ile805=
NR_123738.1:n.1550C>T
XM_011519831.1:c.2439C>T	XP_011518133.1:p.Ile813=
XM_011519832.1:c.1668C>T	XP_011518134.1:p.Ile556=
XM_011519832.3:c.1668C>T	XP_011518134.1:p.Ile556=
XM_017017075.1:c.2415C>T	XP_016872564.1:p.Ile805=
XR_001747717.2:n.1674C>T
NM_153676.4:c.2415C>T MANE Select	NP_710142.1:p.Ile805=
NM_001297764.2:c.1458C>T	NP_001284693.1:p.Ile486=
NM_005709.4:c.1515C>T MANE Plus Clinical	NP_005700.2:p.Ile505=
NR_123738.2:n.1550C>T