Canonical Allele Identifier: CA473305001

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17519808C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498261C>A , CM000673.2:g.17498261C>A	GRCh38
NC_000011.9:g.17519808C>A , CM000673.1:g.17519808C>A	GRCh37
NC_000011.8:g.17476384C>A	NCBI36
NG_011883.1:g.51156G>T
NG_011883.2:g.51156G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2391G>T MANE Select	ENSP00000005226.7:p.Val797=
ENST00000318024.9:c.1491G>T MANE Plus Clinical	ENSP00000317018.4:p.Val497=
ENST00000005226.11:c.2391G>T	ENSP00000005226.7:p.Val797=
ENST00000318024.8:c.1491G>T	ENSP00000317018.4:p.Val497=
ENST00000526313.5:c.*205G>T	ENSP00000432236.1:n.*205G>T
ENST00000527020.5:c.1434G>T	ENSP00000436934.1:p.Val478=
ENST00000527720.5:c.1398G>T	ENSP00000432944.1:p.Val466=
ENST00000529563.5:n.375G>T
NM_001297764.1:c.1434G>T	NP_001284693.1:p.Val478=
NM_005709.3:c.1491G>T	NP_005700.2:p.Val497=
NM_153676.3:c.2391G>T	NP_710142.1:p.Val797=
NR_123738.1:n.1526G>T
XM_011519831.1:c.2415G>T	XP_011518133.1:p.Val805=
XM_011519832.1:c.1644G>T	XP_011518134.1:p.Val548=
XM_011519832.3:c.1644G>T	XP_011518134.1:p.Val548=
XM_017017075.1:c.2391G>T	XP_016872564.1:p.Val797=
XR_001747717.2:n.1650G>T
NM_153676.4:c.2391G>T MANE Select	NP_710142.1:p.Val797=
NM_001297764.2:c.1434G>T	NP_001284693.1:p.Val478=
NM_005709.4:c.1491G>T MANE Plus Clinical	NP_005700.2:p.Val497=
NR_123738.2:n.1526G>T