Canonical Allele Identifier: CA379803586

Gene: USH1C

Linked Data

• ClinVar Variation Id: 1721669
• ClinVar RCV Id: RCV002305343
• MyVariant Identifiers: chr11:g.17523072T>G (hg19) ; chr11:g.17501525T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501525T>G , CM000673.2:g.17501525T>G	GRCh38
NC_000011.9:g.17523072T>G , CM000673.1:g.17523072T>G	GRCh37
NC_000011.8:g.17479648T>G	NCBI36
NG_011883.1:g.47892A>C
NG_011883.2:g.47892A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2237A>C MANE Select	ENSP00000005226.7:p.Glu746Ala
ENST00000318024.9:c.1337A>C MANE Plus Clinical	ENSP00000317018.4:p.Glu446Ala
ENST00000005226.11:c.2237A>C	ENSP00000005226.7:p.Glu746Ala
ENST00000318024.8:c.1337A>C	ENSP00000317018.4:p.Glu446Ala
ENST00000526313.5:c.*51A>C	ENSP00000432236.1:n.*51A>C
ENST00000527020.5:c.1280A>C	ENSP00000436934.1:p.Glu427Ala
ENST00000527720.5:c.1244A>C	ENSP00000432944.1:p.Glu415Ala
ENST00000529563.5:n.221A>C
ENST00000534556.1:n.122A>C
NM_001297764.1:c.1280A>C	NP_001284693.1:p.Glu427Ala
NM_005709.3:c.1337A>C	NP_005700.2:p.Glu446Ala
NM_153676.3:c.2237A>C	NP_710142.1:p.Glu746Ala
NR_123738.1:n.1372A>C
XM_011519831.1:c.2261A>C	XP_011518133.1:p.Glu754Ala
XM_011519832.1:c.1490A>C	XP_011518134.1:p.Glu497Ala
XM_011519833.1:c.1387A>C	XP_011518135.1:p.Ser463Arg
XR_930841.1:n.1708A>C
XR_930842.1:n.1649A>C
XM_011519832.3:c.1490A>C	XP_011518134.1:p.Glu497Ala
XM_017017075.1:c.2237A>C	XP_016872564.1:p.Glu746Ala
XR_001747717.2:n.1496A>C
NM_153676.4:c.2237A>C MANE Select	NP_710142.1:p.Glu746Ala
NM_001297764.2:c.1280A>C	NP_001284693.1:p.Glu427Ala
NM_005709.4:c.1337A>C MANE Plus Clinical	NP_005700.2:p.Glu446Ala
NR_123738.2:n.1372A>C