Canonical Allele Identifier: CA379800459

Gene: USH1C

Linked Data

• gnomAD v4: 11-17498179-C-G
• MyVariant Identifiers: chr11:g.17519726C>G (hg19) ; chr11:g.17498179C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498179C>G , CM000673.2:g.17498179C>G	GRCh38
NC_000011.9:g.17519726C>G , CM000673.1:g.17519726C>G	GRCh37
NC_000011.8:g.17476302C>G	NCBI36
NG_011883.1:g.51238G>C
NG_011883.2:g.51238G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2473G>C MANE Select	ENSP00000005226.7:p.Ala825Pro
ENST00000318024.9:c.1573G>C MANE Plus Clinical	ENSP00000317018.4:p.Ala525Pro
ENST00000005226.11:c.2473G>C	ENSP00000005226.7:p.Ala825Pro
ENST00000318024.8:c.1573G>C	ENSP00000317018.4:p.Ala525Pro
ENST00000526313.5:c.*287G>C	ENSP00000432236.1:n.*287G>C
ENST00000527020.5:c.1516G>C	ENSP00000436934.1:p.Ala506Pro
ENST00000527720.5:c.1480G>C	ENSP00000432944.1:p.Ala494Pro
ENST00000529563.5:n.457G>C
NM_001297764.1:c.1516G>C	NP_001284693.1:p.Ala506Pro
NM_005709.3:c.1573G>C	NP_005700.2:p.Ala525Pro
NM_153676.3:c.2473G>C	NP_710142.1:p.Ala825Pro
NR_123738.1:n.1608G>C
XM_011519831.1:c.2497G>C	XP_011518133.1:p.Ala833Pro
XM_011519832.1:c.1726G>C	XP_011518134.1:p.Ala576Pro
XM_011519832.3:c.1726G>C	XP_011518134.1:p.Ala576Pro
XM_017017075.1:c.2473G>C	XP_016872564.1:p.Ala825Pro
XR_001747717.2:n.1732G>C
NM_153676.4:c.2473G>C MANE Select	NP_710142.1:p.Ala825Pro
NM_001297764.2:c.1516G>C	NP_001284693.1:p.Ala506Pro
NM_005709.4:c.1573G>C MANE Plus Clinical	NP_005700.2:p.Ala525Pro
NR_123738.2:n.1608G>C