Canonical Allele Identifier: CA379801138

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17519785A>T (hg19) ; chr11:g.17498238A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498238A>T , CM000673.2:g.17498238A>T	GRCh38
NC_000011.9:g.17519785A>T , CM000673.1:g.17519785A>T	GRCh37
NC_000011.8:g.17476361A>T	NCBI36
NG_011883.1:g.51179T>A
NG_011883.2:g.51179T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2414T>A MANE Select	ENSP00000005226.7:p.Ile805Asn
ENST00000318024.9:c.1514T>A MANE Plus Clinical	ENSP00000317018.4:p.Ile505Asn
ENST00000005226.11:c.2414T>A	ENSP00000005226.7:p.Ile805Asn
ENST00000318024.8:c.1514T>A	ENSP00000317018.4:p.Ile505Asn
ENST00000526313.5:c.*228T>A	ENSP00000432236.1:n.*228T>A
ENST00000527020.5:c.1457T>A	ENSP00000436934.1:p.Ile486Asn
ENST00000527720.5:c.1421T>A	ENSP00000432944.1:p.Ile474Asn
ENST00000529563.5:n.398T>A
NM_001297764.1:c.1457T>A	NP_001284693.1:p.Ile486Asn
NM_005709.3:c.1514T>A	NP_005700.2:p.Ile505Asn
NM_153676.3:c.2414T>A	NP_710142.1:p.Ile805Asn
NR_123738.1:n.1549T>A
XM_011519831.1:c.2438T>A	XP_011518133.1:p.Ile813Asn
XM_011519832.1:c.1667T>A	XP_011518134.1:p.Ile556Asn
XM_011519832.3:c.1667T>A	XP_011518134.1:p.Ile556Asn
XM_017017075.1:c.2414T>A	XP_016872564.1:p.Ile805Asn
XR_001747717.2:n.1673T>A
NM_153676.4:c.2414T>A MANE Select	NP_710142.1:p.Ile805Asn
NM_001297764.2:c.1457T>A	NP_001284693.1:p.Ile486Asn
NM_005709.4:c.1514T>A MANE Plus Clinical	NP_005700.2:p.Ile505Asn
NR_123738.2:n.1549T>A