Canonical Allele Identifier: CA379801274

Gene: USH1C

Linked Data

• gnomAD v4: 11-17498252-G-C
• MyVariant Identifiers: chr11:g.17519799G>C (hg19) ; chr11:g.17498252G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498252G>C , CM000673.2:g.17498252G>C	GRCh38
NC_000011.9:g.17519799G>C , CM000673.1:g.17519799G>C	GRCh37
NC_000011.8:g.17476375G>C	NCBI36
NG_011883.1:g.51165C>G
NG_011883.2:g.51165C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2400C>G MANE Select	ENSP00000005226.7:p.Asp800Glu
ENST00000318024.9:c.1500C>G MANE Plus Clinical	ENSP00000317018.4:p.Asp500Glu
ENST00000005226.11:c.2400C>G	ENSP00000005226.7:p.Asp800Glu
ENST00000318024.8:c.1500C>G	ENSP00000317018.4:p.Asp500Glu
ENST00000526313.5:c.*214C>G	ENSP00000432236.1:n.*214C>G
ENST00000527020.5:c.1443C>G	ENSP00000436934.1:p.Asp481Glu
ENST00000527720.5:c.1407C>G	ENSP00000432944.1:p.Asp469Glu
ENST00000529563.5:n.384C>G
NM_001297764.1:c.1443C>G	NP_001284693.1:p.Asp481Glu
NM_005709.3:c.1500C>G	NP_005700.2:p.Asp500Glu
NM_153676.3:c.2400C>G	NP_710142.1:p.Asp800Glu
NR_123738.1:n.1535C>G
XM_011519831.1:c.2424C>G	XP_011518133.1:p.Asp808Glu
XM_011519832.1:c.1653C>G	XP_011518134.1:p.Asp551Glu
XM_011519832.3:c.1653C>G	XP_011518134.1:p.Asp551Glu
XM_017017075.1:c.2400C>G	XP_016872564.1:p.Asp800Glu
XR_001747717.2:n.1659C>G
NM_153676.4:c.2400C>G MANE Select	NP_710142.1:p.Asp800Glu
NM_001297764.2:c.1443C>G	NP_001284693.1:p.Asp481Glu
NM_005709.4:c.1500C>G MANE Plus Clinical	NP_005700.2:p.Asp500Glu
NR_123738.2:n.1535C>G