Canonical Allele Identifier: CA379800395

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17519720T>A (hg19) ; chr11:g.17498173T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498173T>A , CM000673.2:g.17498173T>A	GRCh38
NC_000011.9:g.17519720T>A , CM000673.1:g.17519720T>A	GRCh37
NC_000011.8:g.17476296T>A	NCBI36
NG_011883.1:g.51244A>T
NG_011883.2:g.51244A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2479A>T MANE Select	ENSP00000005226.7:p.Asn827Tyr
ENST00000318024.9:c.1579A>T MANE Plus Clinical	ENSP00000317018.4:p.Asn527Tyr
ENST00000005226.11:c.2479A>T	ENSP00000005226.7:p.Asn827Tyr
ENST00000318024.8:c.1579A>T	ENSP00000317018.4:p.Asn527Tyr
ENST00000526313.5:c.*293A>T	ENSP00000432236.1:n.*293A>T
ENST00000527020.5:c.1522A>T	ENSP00000436934.1:p.Asn508Tyr
ENST00000527720.5:c.1486A>T	ENSP00000432944.1:p.Asn496Tyr
ENST00000529563.5:n.463A>T
NM_001297764.1:c.1522A>T	NP_001284693.1:p.Asn508Tyr
NM_005709.3:c.1579A>T	NP_005700.2:p.Asn527Tyr
NM_153676.3:c.2479A>T	NP_710142.1:p.Asn827Tyr
NR_123738.1:n.1614A>T
XM_011519831.1:c.2503A>T	XP_011518133.1:p.Asn835Tyr
XM_011519832.1:c.1732A>T	XP_011518134.1:p.Asn578Tyr
XM_011519832.3:c.1732A>T	XP_011518134.1:p.Asn578Tyr
XM_017017075.1:c.2479A>T	XP_016872564.1:p.Asn827Tyr
XR_001747717.2:n.1738A>T
NM_153676.4:c.2479A>T MANE Select	NP_710142.1:p.Asn827Tyr
NM_001297764.2:c.1522A>T	NP_001284693.1:p.Asn508Tyr
NM_005709.4:c.1579A>T MANE Plus Clinical	NP_005700.2:p.Asn527Tyr
NR_123738.2:n.1614A>T