Canonical Allele Identifier: CA379801429

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17519815C>G (hg19) ; chr11:g.17498268C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498268C>G , CM000673.2:g.17498268C>G	GRCh38
NC_000011.9:g.17519815C>G , CM000673.1:g.17519815C>G	GRCh37
NC_000011.8:g.17476391C>G	NCBI36
NG_011883.1:g.51149G>C
NG_011883.2:g.51149G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2384G>C MANE Select	ENSP00000005226.7:p.Gly795Ala
ENST00000318024.9:c.1484G>C MANE Plus Clinical	ENSP00000317018.4:p.Gly495Ala
ENST00000005226.11:c.2384G>C	ENSP00000005226.7:p.Gly795Ala
ENST00000318024.8:c.1484G>C	ENSP00000317018.4:p.Gly495Ala
ENST00000526313.5:c.*198G>C	ENSP00000432236.1:n.*198G>C
ENST00000527020.5:c.1427G>C	ENSP00000436934.1:p.Gly476Ala
ENST00000527720.5:c.1391G>C	ENSP00000432944.1:p.Gly464Ala
ENST00000529563.5:n.368G>C
NM_001297764.1:c.1427G>C	NP_001284693.1:p.Gly476Ala
NM_005709.3:c.1484G>C	NP_005700.2:p.Gly495Ala
NM_153676.3:c.2384G>C	NP_710142.1:p.Gly795Ala
NR_123738.1:n.1519G>C
XM_011519831.1:c.2408G>C	XP_011518133.1:p.Gly803Ala
XM_011519832.1:c.1637G>C	XP_011518134.1:p.Gly546Ala
XM_011519832.3:c.1637G>C	XP_011518134.1:p.Gly546Ala
XM_017017075.1:c.2384G>C	XP_016872564.1:p.Gly795Ala
XR_001747717.2:n.1643G>C
NM_153676.4:c.2384G>C MANE Select	NP_710142.1:p.Gly795Ala
NM_001297764.2:c.1427G>C	NP_001284693.1:p.Gly476Ala
NM_005709.4:c.1484G>C MANE Plus Clinical	NP_005700.2:p.Gly495Ala
NR_123738.2:n.1519G>C