Canonical Allele Identifier: CA379803324

Gene: USH1C

Linked Data

• dbSNP Id: rs1849444061
• MyVariant Identifiers: chr11:g.17523032C>A (hg19) ; chr11:g.17501485C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501485C>A , CM000673.2:g.17501485C>A	GRCh38
NC_000011.9:g.17523032C>A , CM000673.1:g.17523032C>A	GRCh37
NC_000011.8:g.17479608C>A	NCBI36
NG_011883.1:g.47932G>T
NG_011883.2:g.47932G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2277G>T MANE Select	ENSP00000005226.7:p.Lys759Asn
ENST00000318024.9:c.1377G>T MANE Plus Clinical	ENSP00000317018.4:p.Lys459Asn
ENST00000005226.11:c.2277G>T	ENSP00000005226.7:p.Lys759Asn
ENST00000318024.8:c.1377G>T	ENSP00000317018.4:p.Lys459Asn
ENST00000526313.5:c.*91G>T	ENSP00000432236.1:n.*91G>T
ENST00000527020.5:c.1320G>T	ENSP00000436934.1:p.Lys440Asn
ENST00000527720.5:c.1284G>T	ENSP00000432944.1:p.Lys428Asn
ENST00000529563.5:n.261G>T
ENST00000534556.1:n.162G>T
NM_001297764.1:c.1320G>T	NP_001284693.1:p.Lys440Asn
NM_005709.3:c.1377G>T	NP_005700.2:p.Lys459Asn
NM_153676.3:c.2277G>T	NP_710142.1:p.Lys759Asn
NR_123738.1:n.1412G>T
XM_011519831.1:c.2301G>T	XP_011518133.1:p.Lys767Asn
XM_011519832.1:c.1530G>T	XP_011518134.1:p.Lys510Asn
XM_011519833.1:c.1427G>T	XP_011518135.1:p.Arg476Ile
XR_930841.1:n.1748G>T
XR_930842.1:n.1689G>T
XM_011519832.3:c.1530G>T	XP_011518134.1:p.Lys510Asn
XM_017017075.1:c.2277G>T	XP_016872564.1:p.Lys759Asn
XR_001747717.2:n.1536G>T
NM_153676.4:c.2277G>T MANE Select	NP_710142.1:p.Lys759Asn
NM_001297764.2:c.1320G>T	NP_001284693.1:p.Lys440Asn
NM_005709.4:c.1377G>T MANE Plus Clinical	NP_005700.2:p.Lys459Asn
NR_123738.2:n.1412G>T