Canonical Allele Identifier: CA379801187

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17519790C>T (hg19) ; chr11:g.17498243C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498243C>T , CM000673.2:g.17498243C>T	GRCh38
NC_000011.9:g.17519790C>T , CM000673.1:g.17519790C>T	GRCh37
NC_000011.8:g.17476366C>T	NCBI36
NG_011883.1:g.51174G>A
NG_011883.2:g.51174G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2409G>A MANE Select	ENSP00000005226.7:p.Met803Ile
ENST00000318024.9:c.1509G>A MANE Plus Clinical	ENSP00000317018.4:p.Met503Ile
ENST00000005226.11:c.2409G>A	ENSP00000005226.7:p.Met803Ile
ENST00000318024.8:c.1509G>A	ENSP00000317018.4:p.Met503Ile
ENST00000526313.5:c.*223G>A	ENSP00000432236.1:n.*223G>A
ENST00000527020.5:c.1452G>A	ENSP00000436934.1:p.Met484Ile
ENST00000527720.5:c.1416G>A	ENSP00000432944.1:p.Met472Ile
ENST00000529563.5:n.393G>A
NM_001297764.1:c.1452G>A	NP_001284693.1:p.Met484Ile
NM_005709.3:c.1509G>A	NP_005700.2:p.Met503Ile
NM_153676.3:c.2409G>A	NP_710142.1:p.Met803Ile
NR_123738.1:n.1544G>A
XM_011519831.1:c.2433G>A	XP_011518133.1:p.Met811Ile
XM_011519832.1:c.1662G>A	XP_011518134.1:p.Met554Ile
XM_011519832.3:c.1662G>A	XP_011518134.1:p.Met554Ile
XM_017017075.1:c.2409G>A	XP_016872564.1:p.Met803Ile
XR_001747717.2:n.1668G>A
NM_153676.4:c.2409G>A MANE Select	NP_710142.1:p.Met803Ile
NM_001297764.2:c.1452G>A	NP_001284693.1:p.Met484Ile
NM_005709.4:c.1509G>A MANE Plus Clinical	NP_005700.2:p.Met503Ile
NR_123738.2:n.1544G>A