Canonical Allele Identifier: CA379801234

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17519795T>A (hg19) ; chr11:g.17498248T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498248T>A , CM000673.2:g.17498248T>A	GRCh38
NC_000011.9:g.17519795T>A , CM000673.1:g.17519795T>A	GRCh37
NC_000011.8:g.17476371T>A	NCBI36
NG_011883.1:g.51169A>T
NG_011883.2:g.51169A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2404A>T MANE Select	ENSP00000005226.7:p.Ile802Phe
ENST00000318024.9:c.1504A>T MANE Plus Clinical	ENSP00000317018.4:p.Ile502Phe
ENST00000005226.11:c.2404A>T	ENSP00000005226.7:p.Ile802Phe
ENST00000318024.8:c.1504A>T	ENSP00000317018.4:p.Ile502Phe
ENST00000526313.5:c.*218A>T	ENSP00000432236.1:n.*218A>T
ENST00000527020.5:c.1447A>T	ENSP00000436934.1:p.Ile483Phe
ENST00000527720.5:c.1411A>T	ENSP00000432944.1:p.Ile471Phe
ENST00000529563.5:n.388A>T
NM_001297764.1:c.1447A>T	NP_001284693.1:p.Ile483Phe
NM_005709.3:c.1504A>T	NP_005700.2:p.Ile502Phe
NM_153676.3:c.2404A>T	NP_710142.1:p.Ile802Phe
NR_123738.1:n.1539A>T
XM_011519831.1:c.2428A>T	XP_011518133.1:p.Ile810Phe
XM_011519832.1:c.1657A>T	XP_011518134.1:p.Ile553Phe
XM_011519832.3:c.1657A>T	XP_011518134.1:p.Ile553Phe
XM_017017075.1:c.2404A>T	XP_016872564.1:p.Ile802Phe
XR_001747717.2:n.1663A>T
NM_153676.4:c.2404A>T MANE Select	NP_710142.1:p.Ile802Phe
NM_001297764.2:c.1447A>T	NP_001284693.1:p.Ile483Phe
NM_005709.4:c.1504A>T MANE Plus Clinical	NP_005700.2:p.Ile502Phe
NR_123738.2:n.1539A>T