Canonical Allele Identifier: CA379794884

Gene: USH1C

Linked Data

• ClinVar Variation Id: 2190233
• ClinVar RCV Id: RCV002627961
• dbSNP Id: rs1850714467
• gnomAD v4: 11-17527031-A-G
• MyVariant Identifiers: chr11:g.17548578A>G (hg19) ; chr11:g.17527031A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17527031A>G , CM000673.2:g.17527031A>G	GRCh38
NC_000011.9:g.17548578A>G , CM000673.1:g.17548578A>G	GRCh37
NC_000011.8:g.17505154A>G	NCBI36
NG_011883.1:g.22386T>C
NG_011883.2:g.22386T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.506T>C MANE Select	ENSP00000005226.7:p.Leu169Pro
ENST00000318024.9:c.506T>C MANE Plus Clinical	ENSP00000317018.4:p.Leu169Pro
ENST00000005226.11:c.506T>C	ENSP00000005226.7:p.Leu169Pro
ENST00000318024.8:c.506T>C	ENSP00000317018.4:p.Leu169Pro
ENST00000526181.1:c.539T>C	ENSP00000437128.1:p.Leu180Pro
ENST00000526313.5:c.506T>C	ENSP00000432236.1:p.Leu169Pro
ENST00000527020.5:c.506T>C	ENSP00000436934.1:p.Leu169Pro
ENST00000527720.5:c.413T>C	ENSP00000432944.1:p.Leu138Pro
NM_001297764.1:c.506T>C	NP_001284693.1:p.Leu169Pro
NM_005709.3:c.506T>C	NP_005700.2:p.Leu169Pro
NM_153676.3:c.506T>C	NP_710142.1:p.Leu169Pro
NR_123738.1:n.615T>C
XM_011519831.1:c.506T>C	XP_011518133.1:p.Leu169Pro
XM_011519832.1:c.506T>C	XP_011518134.1:p.Leu169Pro
XM_011519833.1:c.506T>C	XP_011518135.1:p.Leu169Pro
XM_011519834.1:c.506T>C	XP_011518136.1:p.Leu169Pro
XR_930841.1:n.615T>C
XR_930842.1:n.615T>C
XM_011519832.3:c.506T>C	XP_011518134.1:p.Leu169Pro
XM_011519834.2:c.506T>C	XP_011518136.1:p.Leu169Pro
XM_017017072.1:c.506T>C	XP_016872561.1:p.Leu169Pro
XM_017017073.1:c.506T>C	XP_016872562.1:p.Leu169Pro
XM_017017074.1:c.506T>C	XP_016872563.1:p.Leu169Pro
XM_017017075.1:c.506T>C	XP_016872564.1:p.Leu169Pro
XR_001747717.2:n.615T>C
NM_153676.4:c.506T>C MANE Select	NP_710142.1:p.Leu169Pro
NM_001297764.2:c.506T>C	NP_001284693.1:p.Leu169Pro
NM_005709.4:c.506T>C MANE Plus Clinical	NP_005700.2:p.Leu169Pro
NR_123738.2:n.615T>C