Canonical Allele Identifier: CA379803497

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17523058T>G (hg19) ; chr11:g.17501511T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501511T>G , CM000673.2:g.17501511T>G	GRCh38
NC_000011.9:g.17523058T>G , CM000673.1:g.17523058T>G	GRCh37
NC_000011.8:g.17479634T>G	NCBI36
NG_011883.1:g.47906A>C
NG_011883.2:g.47906A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2251A>C MANE Select	ENSP00000005226.7:p.Lys751Gln
ENST00000318024.9:c.1351A>C MANE Plus Clinical	ENSP00000317018.4:p.Lys451Gln
ENST00000005226.11:c.2251A>C	ENSP00000005226.7:p.Lys751Gln
ENST00000318024.8:c.1351A>C	ENSP00000317018.4:p.Lys451Gln
ENST00000526313.5:c.*65A>C	ENSP00000432236.1:n.*65A>C
ENST00000527020.5:c.1294A>C	ENSP00000436934.1:p.Lys432Gln
ENST00000527720.5:c.1258A>C	ENSP00000432944.1:p.Lys420Gln
ENST00000529563.5:n.235A>C
ENST00000534556.1:n.136A>C
NM_001297764.1:c.1294A>C	NP_001284693.1:p.Lys432Gln
NM_005709.3:c.1351A>C	NP_005700.2:p.Lys451Gln
NM_153676.3:c.2251A>C	NP_710142.1:p.Lys751Gln
NR_123738.1:n.1386A>C
XM_011519831.1:c.2275A>C	XP_011518133.1:p.Lys759Gln
XM_011519832.1:c.1504A>C	XP_011518134.1:p.Lys502Gln
XM_011519833.1:c.1401A>C	XP_011518135.1:p.Gly467=
XR_930841.1:n.1722A>C
XR_930842.1:n.1663A>C
XM_011519832.3:c.1504A>C	XP_011518134.1:p.Lys502Gln
XM_017017075.1:c.2251A>C	XP_016872564.1:p.Lys751Gln
XR_001747717.2:n.1510A>C
NM_153676.4:c.2251A>C MANE Select	NP_710142.1:p.Lys751Gln
NM_001297764.2:c.1294A>C	NP_001284693.1:p.Lys432Gln
NM_005709.4:c.1351A>C MANE Plus Clinical	NP_005700.2:p.Lys451Gln
NR_123738.2:n.1386A>C