Canonical Allele Identifier: CA379803197

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17522685C>T (hg19) ; chr11:g.17501138C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501138C>T , CM000673.2:g.17501138C>T	GRCh38
NC_000011.9:g.17522685C>T , CM000673.1:g.17522685C>T	GRCh37
NC_000011.8:g.17479261C>T	NCBI36
NG_011883.1:g.48279G>A
NG_011883.2:g.48279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2293G>A MANE Select	ENSP00000005226.7:p.Asp765Asn
ENST00000318024.9:c.1393G>A MANE Plus Clinical	ENSP00000317018.4:p.Asp465Asn
ENST00000005226.11:c.2293G>A	ENSP00000005226.7:p.Asp765Asn
ENST00000318024.8:c.1393G>A	ENSP00000317018.4:p.Asp465Asn
ENST00000526313.5:c.*107G>A	ENSP00000432236.1:n.*107G>A
ENST00000527020.5:c.1336G>A	ENSP00000436934.1:p.Asp446Asn
ENST00000527720.5:c.1300G>A	ENSP00000432944.1:p.Asp434Asn
ENST00000529563.5:n.277G>A
ENST00000534556.1:n.178G>A
NM_001297764.1:c.1336G>A	NP_001284693.1:p.Asp446Asn
NM_005709.3:c.1393G>A	NP_005700.2:p.Asp465Asn
NM_153676.3:c.2293G>A	NP_710142.1:p.Asp765Asn
NR_123738.1:n.1428G>A
XM_011519831.1:c.2317G>A	XP_011518133.1:p.Asp773Asn
XM_011519832.1:c.1546G>A	XP_011518134.1:p.Asp516Asn
XM_011519833.1:c.1443G>A	XP_011518135.1:p.Ter481=
XR_930841.1:n.1764G>A
XR_930842.1:n.1705G>A
XM_011519832.3:c.1546G>A	XP_011518134.1:p.Asp516Asn
XM_017017075.1:c.2293G>A	XP_016872564.1:p.Asp765Asn
XR_001747717.2:n.1552G>A
NM_153676.4:c.2293G>A MANE Select	NP_710142.1:p.Asp765Asn
NM_001297764.2:c.1336G>A	NP_001284693.1:p.Asp446Asn
NM_005709.4:c.1393G>A MANE Plus Clinical	NP_005700.2:p.Asp465Asn
NR_123738.2:n.1428G>A