Canonical Allele Identifier: CA379803111

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17522661C>G (hg19) ; chr11:g.17501114C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501114C>G , CM000673.2:g.17501114C>G	GRCh38
NC_000011.9:g.17522661C>G , CM000673.1:g.17522661C>G	GRCh37
NC_000011.8:g.17479237C>G	NCBI36
NG_011883.1:g.48303G>C
NG_011883.2:g.48303G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2317G>C MANE Select	ENSP00000005226.7:p.Asp773His
ENST00000318024.9:c.1417G>C MANE Plus Clinical	ENSP00000317018.4:p.Asp473His
ENST00000005226.11:c.2317G>C	ENSP00000005226.7:p.Asp773His
ENST00000318024.8:c.1417G>C	ENSP00000317018.4:p.Asp473His
ENST00000526313.5:c.*131G>C	ENSP00000432236.1:n.*131G>C
ENST00000527020.5:c.1360G>C	ENSP00000436934.1:p.Asp454His
ENST00000527720.5:c.1324G>C	ENSP00000432944.1:p.Asp442His
ENST00000529563.5:n.301G>C
ENST00000534556.1:n.202G>C
NM_001297764.1:c.1360G>C	NP_001284693.1:p.Asp454His
NM_005709.3:c.1417G>C	NP_005700.2:p.Asp473His
NM_153676.3:c.2317G>C	NP_710142.1:p.Asp773His
NR_123738.1:n.1452G>C
XM_011519831.1:c.2341G>C	XP_011518133.1:p.Asp781His
XM_011519832.1:c.1570G>C	XP_011518134.1:p.Asp524His
XM_011519833.1:c.*24G>C	XP_011518135.1:n.*24G>C
XR_930841.1:n.1788G>C
XR_930842.1:n.1729G>C
XM_011519832.3:c.1570G>C	XP_011518134.1:p.Asp524His
XM_017017075.1:c.2317G>C	XP_016872564.1:p.Asp773His
XR_001747717.2:n.1576G>C
NM_153676.4:c.2317G>C MANE Select	NP_710142.1:p.Asp773His
NM_001297764.2:c.1360G>C	NP_001284693.1:p.Asp454His
NM_005709.4:c.1417G>C MANE Plus Clinical	NP_005700.2:p.Asp473His
NR_123738.2:n.1452G>C