Canonical Allele Identifier: CA473305401

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17523050G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501503G>A , CM000673.2:g.17501503G>A	GRCh38
NC_000011.9:g.17523050G>A , CM000673.1:g.17523050G>A	GRCh37
NC_000011.8:g.17479626G>A	NCBI36
NG_011883.1:g.47914C>T
NG_011883.2:g.47914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2259C>T MANE Select	ENSP00000005226.7:p.Val753=
ENST00000318024.9:c.1359C>T MANE Plus Clinical	ENSP00000317018.4:p.Val453=
ENST00000005226.11:c.2259C>T	ENSP00000005226.7:p.Val753=
ENST00000318024.8:c.1359C>T	ENSP00000317018.4:p.Val453=
ENST00000526313.5:c.*73C>T	ENSP00000432236.1:n.*73C>T
ENST00000527020.5:c.1302C>T	ENSP00000436934.1:p.Val434=
ENST00000527720.5:c.1266C>T	ENSP00000432944.1:p.Val422=
ENST00000529563.5:n.243C>T
ENST00000534556.1:n.144C>T
NM_001297764.1:c.1302C>T	NP_001284693.1:p.Val434=
NM_005709.3:c.1359C>T	NP_005700.2:p.Val453=
NM_153676.3:c.2259C>T	NP_710142.1:p.Val753=
NR_123738.1:n.1394C>T
XM_011519831.1:c.2283C>T	XP_011518133.1:p.Val761=
XM_011519832.1:c.1512C>T	XP_011518134.1:p.Val504=
XM_011519833.1:c.1409C>T	XP_011518135.1:p.Ser470Phe
XR_930841.1:n.1730C>T
XR_930842.1:n.1671C>T
XM_011519832.3:c.1512C>T	XP_011518134.1:p.Val504=
XM_017017075.1:c.2259C>T	XP_016872564.1:p.Val753=
XR_001747717.2:n.1518C>T
NM_153676.4:c.2259C>T MANE Select	NP_710142.1:p.Val753=
NM_001297764.2:c.1302C>T	NP_001284693.1:p.Val434=
NM_005709.4:c.1359C>T MANE Plus Clinical	NP_005700.2:p.Val453=
NR_123738.2:n.1394C>T