Canonical Allele Identifier: CA379803563

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17523067T>G (hg19) ; chr11:g.17501520T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501520T>G , CM000673.2:g.17501520T>G	GRCh38
NC_000011.9:g.17523067T>G , CM000673.1:g.17523067T>G	GRCh37
NC_000011.8:g.17479643T>G	NCBI36
NG_011883.1:g.47897A>C
NG_011883.2:g.47897A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2242A>C MANE Select	ENSP00000005226.7:p.Ile748Leu
ENST00000318024.9:c.1342A>C MANE Plus Clinical	ENSP00000317018.4:p.Ile448Leu
ENST00000005226.11:c.2242A>C	ENSP00000005226.7:p.Ile748Leu
ENST00000318024.8:c.1342A>C	ENSP00000317018.4:p.Ile448Leu
ENST00000526313.5:c.*56A>C	ENSP00000432236.1:n.*56A>C
ENST00000527020.5:c.1285A>C	ENSP00000436934.1:p.Ile429Leu
ENST00000527720.5:c.1249A>C	ENSP00000432944.1:p.Ile417Leu
ENST00000529563.5:n.226A>C
ENST00000534556.1:n.127A>C
NM_001297764.1:c.1285A>C	NP_001284693.1:p.Ile429Leu
NM_005709.3:c.1342A>C	NP_005700.2:p.Ile448Leu
NM_153676.3:c.2242A>C	NP_710142.1:p.Ile748Leu
NR_123738.1:n.1377A>C
XM_011519831.1:c.2266A>C	XP_011518133.1:p.Ile756Leu
XM_011519832.1:c.1495A>C	XP_011518134.1:p.Ile499Leu
XM_011519833.1:c.1392A>C	XP_011518135.1:p.Arg464Ser
XR_930841.1:n.1713A>C
XR_930842.1:n.1654A>C
XM_011519832.3:c.1495A>C	XP_011518134.1:p.Ile499Leu
XM_017017075.1:c.2242A>C	XP_016872564.1:p.Ile748Leu
XR_001747717.2:n.1501A>C
NM_153676.4:c.2242A>C MANE Select	NP_710142.1:p.Ile748Leu
NM_001297764.2:c.1285A>C	NP_001284693.1:p.Ile429Leu
NM_005709.4:c.1342A>C MANE Plus Clinical	NP_005700.2:p.Ile448Leu
NR_123738.2:n.1377A>C