Canonical Allele Identifier: CA379803556

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17523066A>G (hg19) ; chr11:g.17501519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501519A>G , CM000673.2:g.17501519A>G	GRCh38
NC_000011.9:g.17523066A>G , CM000673.1:g.17523066A>G	GRCh37
NC_000011.8:g.17479642A>G	NCBI36
NG_011883.1:g.47898T>C
NG_011883.2:g.47898T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2243T>C MANE Select	ENSP00000005226.7:p.Ile748Thr
ENST00000318024.9:c.1343T>C MANE Plus Clinical	ENSP00000317018.4:p.Ile448Thr
ENST00000005226.11:c.2243T>C	ENSP00000005226.7:p.Ile748Thr
ENST00000318024.8:c.1343T>C	ENSP00000317018.4:p.Ile448Thr
ENST00000526313.5:c.*57T>C	ENSP00000432236.1:n.*57T>C
ENST00000527020.5:c.1286T>C	ENSP00000436934.1:p.Ile429Thr
ENST00000527720.5:c.1250T>C	ENSP00000432944.1:p.Ile417Thr
ENST00000529563.5:n.227T>C
ENST00000534556.1:n.128T>C
NM_001297764.1:c.1286T>C	NP_001284693.1:p.Ile429Thr
NM_005709.3:c.1343T>C	NP_005700.2:p.Ile448Thr
NM_153676.3:c.2243T>C	NP_710142.1:p.Ile748Thr
NR_123738.1:n.1378T>C
XM_011519831.1:c.2267T>C	XP_011518133.1:p.Ile756Thr
XM_011519832.1:c.1496T>C	XP_011518134.1:p.Ile499Thr
XM_011519833.1:c.1393T>C	XP_011518135.1:p.Ser465Pro
XR_930841.1:n.1714T>C
XR_930842.1:n.1655T>C
XM_011519832.3:c.1496T>C	XP_011518134.1:p.Ile499Thr
XM_017017075.1:c.2243T>C	XP_016872564.1:p.Ile748Thr
XR_001747717.2:n.1502T>C
NM_153676.4:c.2243T>C MANE Select	NP_710142.1:p.Ile748Thr
NM_001297764.2:c.1286T>C	NP_001284693.1:p.Ile429Thr
NM_005709.4:c.1343T>C MANE Plus Clinical	NP_005700.2:p.Ile448Thr
NR_123738.2:n.1378T>C