Canonical Allele Identifier: CA379800924

Gene: USH1C

Linked Data

• ClinVar Variation Id: 877521
• ClinVar RCV Id: RCV001103298
• dbSNP Id: rs1849309216
• gnomAD v4: 11-17498215-A-C
• MyVariant Identifiers: chr11:g.17519762A>C (hg19) ; chr11:g.17498215A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498215A>C , CM000673.2:g.17498215A>C	GRCh38
NC_000011.9:g.17519762A>C , CM000673.1:g.17519762A>C	GRCh37
NC_000011.8:g.17476338A>C	NCBI36
NG_011883.1:g.51202T>G
NG_011883.2:g.51202T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2437T>G MANE Select	ENSP00000005226.7:p.Tyr813Asp
ENST00000318024.9:c.1537T>G MANE Plus Clinical	ENSP00000317018.4:p.Tyr513Asp
ENST00000005226.11:c.2437T>G	ENSP00000005226.7:p.Tyr813Asp
ENST00000318024.8:c.1537T>G	ENSP00000317018.4:p.Tyr513Asp
ENST00000526313.5:c.*251T>G	ENSP00000432236.1:n.*251T>G
ENST00000527020.5:c.1480T>G	ENSP00000436934.1:p.Tyr494Asp
ENST00000527720.5:c.1444T>G	ENSP00000432944.1:p.Tyr482Asp
ENST00000529563.5:n.421T>G
NM_001297764.1:c.1480T>G	NP_001284693.1:p.Tyr494Asp
NM_005709.3:c.1537T>G	NP_005700.2:p.Tyr513Asp
NM_153676.3:c.2437T>G	NP_710142.1:p.Tyr813Asp
NR_123738.1:n.1572T>G
XM_011519831.1:c.2461T>G	XP_011518133.1:p.Tyr821Asp
XM_011519832.1:c.1690T>G	XP_011518134.1:p.Tyr564Asp
XM_011519832.3:c.1690T>G	XP_011518134.1:p.Tyr564Asp
XM_017017075.1:c.2437T>G	XP_016872564.1:p.Tyr813Asp
XR_001747717.2:n.1696T>G
NM_153676.4:c.2437T>G MANE Select	NP_710142.1:p.Tyr813Asp
NM_001297764.2:c.1480T>G	NP_001284693.1:p.Tyr494Asp
NM_005709.4:c.1537T>G MANE Plus Clinical	NP_005700.2:p.Tyr513Asp
NR_123738.2:n.1572T>G