Canonical Allele Identifier: CA379803192

Gene: USH1C

Linked Data

• gnomAD v4: 11-17501137-T-G
• MyVariant Identifiers: chr11:g.17522684T>G (hg19) ; chr11:g.17501137T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501137T>G , CM000673.2:g.17501137T>G	GRCh38
NC_000011.9:g.17522684T>G , CM000673.1:g.17522684T>G	GRCh37
NC_000011.8:g.17479260T>G	NCBI36
NG_011883.1:g.48280A>C
NG_011883.2:g.48280A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2294A>C MANE Select	ENSP00000005226.7:p.Asp765Ala
ENST00000318024.9:c.1394A>C MANE Plus Clinical	ENSP00000317018.4:p.Asp465Ala
ENST00000005226.11:c.2294A>C	ENSP00000005226.7:p.Asp765Ala
ENST00000318024.8:c.1394A>C	ENSP00000317018.4:p.Asp465Ala
ENST00000526313.5:c.*108A>C	ENSP00000432236.1:n.*108A>C
ENST00000527020.5:c.1337A>C	ENSP00000436934.1:p.Asp446Ala
ENST00000527720.5:c.1301A>C	ENSP00000432944.1:p.Asp434Ala
ENST00000529563.5:n.278A>C
ENST00000534556.1:n.179A>C
NM_001297764.1:c.1337A>C	NP_001284693.1:p.Asp446Ala
NM_005709.3:c.1394A>C	NP_005700.2:p.Asp465Ala
NM_153676.3:c.2294A>C	NP_710142.1:p.Asp765Ala
NR_123738.1:n.1429A>C
XM_011519831.1:c.2318A>C	XP_011518133.1:p.Asp773Ala
XM_011519832.1:c.1547A>C	XP_011518134.1:p.Asp516Ala
XM_011519833.1:c.*1A>C	XP_011518135.1:n.*1A>C
XR_930841.1:n.1765A>C
XR_930842.1:n.1706A>C
XM_011519832.3:c.1547A>C	XP_011518134.1:p.Asp516Ala
XM_017017075.1:c.2294A>C	XP_016872564.1:p.Asp765Ala
XR_001747717.2:n.1553A>C
NM_153676.4:c.2294A>C MANE Select	NP_710142.1:p.Asp765Ala
NM_001297764.2:c.1337A>C	NP_001284693.1:p.Asp446Ala
NM_005709.4:c.1394A>C MANE Plus Clinical	NP_005700.2:p.Asp465Ala
NR_123738.2:n.1429A>C