Canonical Allele Identifier: CA379801144

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17519786T>A (hg19) ; chr11:g.17498239T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498239T>A , CM000673.2:g.17498239T>A	GRCh38
NC_000011.9:g.17519786T>A , CM000673.1:g.17519786T>A	GRCh37
NC_000011.8:g.17476362T>A	NCBI36
NG_011883.1:g.51178A>T
NG_011883.2:g.51178A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2413A>T MANE Select	ENSP00000005226.7:p.Ile805Phe
ENST00000318024.9:c.1513A>T MANE Plus Clinical	ENSP00000317018.4:p.Ile505Phe
ENST00000005226.11:c.2413A>T	ENSP00000005226.7:p.Ile805Phe
ENST00000318024.8:c.1513A>T	ENSP00000317018.4:p.Ile505Phe
ENST00000526313.5:c.*227A>T	ENSP00000432236.1:n.*227A>T
ENST00000527020.5:c.1456A>T	ENSP00000436934.1:p.Ile486Phe
ENST00000527720.5:c.1420A>T	ENSP00000432944.1:p.Ile474Phe
ENST00000529563.5:n.397A>T
NM_001297764.1:c.1456A>T	NP_001284693.1:p.Ile486Phe
NM_005709.3:c.1513A>T	NP_005700.2:p.Ile505Phe
NM_153676.3:c.2413A>T	NP_710142.1:p.Ile805Phe
NR_123738.1:n.1548A>T
XM_011519831.1:c.2437A>T	XP_011518133.1:p.Ile813Phe
XM_011519832.1:c.1666A>T	XP_011518134.1:p.Ile556Phe
XM_011519832.3:c.1666A>T	XP_011518134.1:p.Ile556Phe
XM_017017075.1:c.2413A>T	XP_016872564.1:p.Ile805Phe
XR_001747717.2:n.1672A>T
NM_153676.4:c.2413A>T MANE Select	NP_710142.1:p.Ile805Phe
NM_001297764.2:c.1456A>T	NP_001284693.1:p.Ile486Phe
NM_005709.4:c.1513A>T MANE Plus Clinical	NP_005700.2:p.Ile505Phe
NR_123738.2:n.1548A>T