Canonical Allele Identifier: CA379803466

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17523055C>A (hg19) ; chr11:g.17501508C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501508C>A , CM000673.2:g.17501508C>A	GRCh38
NC_000011.9:g.17523055C>A , CM000673.1:g.17523055C>A	GRCh37
NC_000011.8:g.17479631C>A	NCBI36
NG_011883.1:g.47909G>T
NG_011883.2:g.47909G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2254G>T MANE Select	ENSP00000005226.7:p.Asp752Tyr
ENST00000318024.9:c.1354G>T MANE Plus Clinical	ENSP00000317018.4:p.Asp452Tyr
ENST00000005226.11:c.2254G>T	ENSP00000005226.7:p.Asp752Tyr
ENST00000318024.8:c.1354G>T	ENSP00000317018.4:p.Asp452Tyr
ENST00000526313.5:c.*68G>T	ENSP00000432236.1:n.*68G>T
ENST00000527020.5:c.1297G>T	ENSP00000436934.1:p.Asp433Tyr
ENST00000527720.5:c.1261G>T	ENSP00000432944.1:p.Asp421Tyr
ENST00000529563.5:n.238G>T
ENST00000534556.1:n.139G>T
NM_001297764.1:c.1297G>T	NP_001284693.1:p.Asp433Tyr
NM_005709.3:c.1354G>T	NP_005700.2:p.Asp452Tyr
NM_153676.3:c.2254G>T	NP_710142.1:p.Asp752Tyr
NR_123738.1:n.1389G>T
XM_011519831.1:c.2278G>T	XP_011518133.1:p.Asp760Tyr
XM_011519832.1:c.1507G>T	XP_011518134.1:p.Asp503Tyr
XM_011519833.1:c.1404G>T	XP_011518135.1:p.Arg468Ser
XR_930841.1:n.1725G>T
XR_930842.1:n.1666G>T
XM_011519832.3:c.1507G>T	XP_011518134.1:p.Asp503Tyr
XM_017017075.1:c.2254G>T	XP_016872564.1:p.Asp752Tyr
XR_001747717.2:n.1513G>T
NM_153676.4:c.2254G>T MANE Select	NP_710142.1:p.Asp752Tyr
NM_001297764.2:c.1297G>T	NP_001284693.1:p.Asp433Tyr
NM_005709.4:c.1354G>T MANE Plus Clinical	NP_005700.2:p.Asp452Tyr
NR_123738.2:n.1389G>T