Canonical Allele Identifier: CA182565

Gene: USH1C

Linked Data

• ClinVar Variation Id: 178563
• ClinVar RCV Id: RCV000155311 ; RCV000425626 ; RCV001103299
• dbSNP Id: rs150593932
• ExAC: 11:17519789 C / T
• gnomAD v2: 11-17519789-C-T
• gnomAD v3: 11-17498242-C-T
• gnomAD v4: 11-17498242-C-T
• MyVariant Identifiers: chr11:g.17519789C>T (hg19) ; chr11:g.17498242C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498242C>T , CM000673.2:g.17498242C>T	GRCh38
NC_000011.9:g.17519789C>T , CM000673.1:g.17519789C>T	GRCh37
NC_000011.8:g.17476365C>T	NCBI36
NG_011883.1:g.51175G>A
NG_011883.2:g.51175G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2410G>A MANE Select	ENSP00000005226.7:p.Ala804Thr
ENST00000318024.9:c.1510G>A MANE Plus Clinical	ENSP00000317018.4:p.Ala504Thr
ENST00000005226.11:c.2410G>A	ENSP00000005226.7:p.Ala804Thr
ENST00000318024.8:c.1510G>A	ENSP00000317018.4:p.Ala504Thr
ENST00000526313.5:c.*224G>A	ENSP00000432236.1:n.*224G>A
ENST00000527020.5:c.1453G>A	ENSP00000436934.1:p.Ala485Thr
ENST00000527720.5:c.1417G>A	ENSP00000432944.1:p.Ala473Thr
ENST00000529563.5:n.394G>A
NM_001297764.1:c.1453G>A	NP_001284693.1:p.Ala485Thr
NM_005709.3:c.1510G>A	NP_005700.2:p.Ala504Thr
NM_153676.3:c.2410G>A	NP_710142.1:p.Ala804Thr
NR_123738.1:n.1545G>A
XM_011519831.1:c.2434G>A	XP_011518133.1:p.Ala812Thr
XM_011519832.1:c.1663G>A	XP_011518134.1:p.Ala555Thr
XM_011519832.3:c.1663G>A	XP_011518134.1:p.Ala555Thr
XM_017017075.1:c.2410G>A	XP_016872564.1:p.Ala804Thr
XR_001747717.2:n.1669G>A
NM_153676.4:c.2410G>A MANE Select	NP_710142.1:p.Ala804Thr
NM_001297764.2:c.1453G>A	NP_001284693.1:p.Ala485Thr
NM_005709.4:c.1510G>A MANE Plus Clinical	NP_005700.2:p.Ala504Thr
NR_123738.2:n.1545G>A