Canonical Allele Identifier: CA473305272

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17522626C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501079C>A , CM000673.2:g.17501079C>A	GRCh38
NC_000011.9:g.17522626C>A , CM000673.1:g.17522626C>A	GRCh37
NC_000011.8:g.17479202C>A	NCBI36
NG_011883.1:g.48338G>T
NG_011883.2:g.48338G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2352G>T MANE Select	ENSP00000005226.7:p.Val784=
ENST00000318024.9:c.1452G>T MANE Plus Clinical	ENSP00000317018.4:p.Val484=
ENST00000005226.11:c.2352G>T	ENSP00000005226.7:p.Val784=
ENST00000318024.8:c.1452G>T	ENSP00000317018.4:p.Val484=
ENST00000526313.5:c.*166G>T	ENSP00000432236.1:n.*166G>T
ENST00000527020.5:c.1395G>T	ENSP00000436934.1:p.Val465=
ENST00000527720.5:c.1359G>T	ENSP00000432944.1:p.Val453=
ENST00000529563.5:n.336G>T
ENST00000534556.1:n.237G>T
NM_001297764.1:c.1395G>T	NP_001284693.1:p.Val465=
NM_005709.3:c.1452G>T	NP_005700.2:p.Val484=
NM_153676.3:c.2352G>T	NP_710142.1:p.Val784=
NR_123738.1:n.1487G>T
XM_011519831.1:c.2376G>T	XP_011518133.1:p.Val792=
XM_011519832.1:c.1605G>T	XP_011518134.1:p.Val535=
XM_011519833.1:c.*59G>T	XP_011518135.1:n.*59G>T
XR_930841.1:n.1823G>T
XR_930842.1:n.1764G>T
XM_011519832.3:c.1605G>T	XP_011518134.1:p.Val535=
XM_017017075.1:c.2352G>T	XP_016872564.1:p.Val784=
XR_001747717.2:n.1611G>T
NM_153676.4:c.2352G>T MANE Select	NP_710142.1:p.Val784=
NM_001297764.2:c.1395G>T	NP_001284693.1:p.Val465=
NM_005709.4:c.1452G>T MANE Plus Clinical	NP_005700.2:p.Val484=
NR_123738.2:n.1487G>T