Canonical Allele Identifier: CA5905038

Gene: USH1C

Linked Data

• dbSNP Id: rs778921099
• ExAC: 11:17548797 T / C
• gnomAD v2: 11-17548797-T-C
• gnomAD v4: 11-17527250-T-C
• MyVariant Identifiers: chr11:g.17548797T>C (hg19) ; chr11:g.17527250T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17527250T>C , CM000673.2:g.17527250T>C	GRCh38
NC_000011.9:g.17548797T>C , CM000673.1:g.17548797T>C	GRCh37
NC_000011.8:g.17505373T>C	NCBI36
NG_011883.1:g.22167A>G
NG_011883.2:g.22167A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.469A>G MANE Select	ENSP00000005226.7:p.Lys157Glu
ENST00000318024.9:c.469A>G MANE Plus Clinical	ENSP00000317018.4:p.Lys157Glu
ENST00000005226.11:c.469A>G	ENSP00000005226.7:p.Lys157Glu
ENST00000318024.8:c.469A>G	ENSP00000317018.4:p.Lys157Glu
ENST00000526181.1:c.502A>G	ENSP00000437128.1:p.Lys168Glu
ENST00000526313.5:c.469A>G	ENSP00000432236.1:p.Lys157Glu
ENST00000527020.5:c.469A>G	ENSP00000436934.1:p.Lys157Glu
ENST00000527720.5:c.376A>G	ENSP00000432944.1:p.Lys126Glu
NM_001297764.1:c.469A>G	NP_001284693.1:p.Lys157Glu
NM_005709.3:c.469A>G	NP_005700.2:p.Lys157Glu
NM_153676.3:c.469A>G	NP_710142.1:p.Lys157Glu
NR_123738.1:n.578A>G
XM_011519831.1:c.469A>G	XP_011518133.1:p.Lys157Glu
XM_011519832.1:c.469A>G	XP_011518134.1:p.Lys157Glu
XM_011519833.1:c.469A>G	XP_011518135.1:p.Lys157Glu
XM_011519834.1:c.469A>G	XP_011518136.1:p.Lys157Glu
XR_930841.1:n.578A>G
XR_930842.1:n.578A>G
XM_011519832.3:c.469A>G	XP_011518134.1:p.Lys157Glu
XM_011519834.2:c.469A>G	XP_011518136.1:p.Lys157Glu
XM_017017072.1:c.469A>G	XP_016872561.1:p.Lys157Glu
XM_017017073.1:c.469A>G	XP_016872562.1:p.Lys157Glu
XM_017017074.1:c.469A>G	XP_016872563.1:p.Lys157Glu
XM_017017075.1:c.469A>G	XP_016872564.1:p.Lys157Glu
XR_001747717.2:n.578A>G
NM_153676.4:c.469A>G MANE Select	NP_710142.1:p.Lys157Glu
NM_001297764.2:c.469A>G	NP_001284693.1:p.Lys157Glu
NM_005709.4:c.469A>G MANE Plus Clinical	NP_005700.2:p.Lys157Glu
NR_123738.2:n.578A>G