Canonical Allele Identifier: CA473304973

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17519778G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498231G>A , CM000673.2:g.17498231G>A	GRCh38
NC_000011.9:g.17519778G>A , CM000673.1:g.17519778G>A	GRCh37
NC_000011.8:g.17476354G>A	NCBI36
NG_011883.1:g.51186C>T
NG_011883.2:g.51186C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2421C>T MANE Select	ENSP00000005226.7:p.Gly807=
ENST00000318024.9:c.1521C>T MANE Plus Clinical	ENSP00000317018.4:p.Gly507=
ENST00000005226.11:c.2421C>T	ENSP00000005226.7:p.Gly807=
ENST00000318024.8:c.1521C>T	ENSP00000317018.4:p.Gly507=
ENST00000526313.5:c.*235C>T	ENSP00000432236.1:n.*235C>T
ENST00000527020.5:c.1464C>T	ENSP00000436934.1:p.Gly488=
ENST00000527720.5:c.1428C>T	ENSP00000432944.1:p.Gly476=
ENST00000529563.5:n.405C>T
NM_001297764.1:c.1464C>T	NP_001284693.1:p.Gly488=
NM_005709.3:c.1521C>T	NP_005700.2:p.Gly507=
NM_153676.3:c.2421C>T	NP_710142.1:p.Gly807=
NR_123738.1:n.1556C>T
XM_011519831.1:c.2445C>T	XP_011518133.1:p.Gly815=
XM_011519832.1:c.1674C>T	XP_011518134.1:p.Gly558=
XM_011519832.3:c.1674C>T	XP_011518134.1:p.Gly558=
XM_017017075.1:c.2421C>T	XP_016872564.1:p.Gly807=
XR_001747717.2:n.1680C>T
NM_153676.4:c.2421C>T MANE Select	NP_710142.1:p.Gly807=
NM_001297764.2:c.1464C>T	NP_001284693.1:p.Gly488=
NM_005709.4:c.1521C>T MANE Plus Clinical	NP_005700.2:p.Gly507=
NR_123738.2:n.1556C>T