Canonical Allele Identifier: CA379803441

Gene: USH1C

Linked Data

• dbSNP Id: rs1299739444
• gnomAD v2: 11-17523051-A-G
• MyVariant Identifiers: chr11:g.17523051A>G (hg19) ; chr11:g.17501504A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501504A>G , CM000673.2:g.17501504A>G	GRCh38
NC_000011.9:g.17523051A>G , CM000673.1:g.17523051A>G	GRCh37
NC_000011.8:g.17479627A>G	NCBI36
NG_011883.1:g.47913T>C
NG_011883.2:g.47913T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2258T>C MANE Select	ENSP00000005226.7:p.Val753Ala
ENST00000318024.9:c.1358T>C MANE Plus Clinical	ENSP00000317018.4:p.Val453Ala
ENST00000005226.11:c.2258T>C	ENSP00000005226.7:p.Val753Ala
ENST00000318024.8:c.1358T>C	ENSP00000317018.4:p.Val453Ala
ENST00000526313.5:c.*72T>C	ENSP00000432236.1:n.*72T>C
ENST00000527020.5:c.1301T>C	ENSP00000436934.1:p.Val434Ala
ENST00000527720.5:c.1265T>C	ENSP00000432944.1:p.Val422Ala
ENST00000529563.5:n.242T>C
ENST00000534556.1:n.143T>C
NM_001297764.1:c.1301T>C	NP_001284693.1:p.Val434Ala
NM_005709.3:c.1358T>C	NP_005700.2:p.Val453Ala
NM_153676.3:c.2258T>C	NP_710142.1:p.Val753Ala
NR_123738.1:n.1393T>C
XM_011519831.1:c.2282T>C	XP_011518133.1:p.Val761Ala
XM_011519832.1:c.1511T>C	XP_011518134.1:p.Val504Ala
XM_011519833.1:c.1408T>C	XP_011518135.1:p.Ser470Pro
XR_930841.1:n.1729T>C
XR_930842.1:n.1670T>C
XM_011519832.3:c.1511T>C	XP_011518134.1:p.Val504Ala
XM_017017075.1:c.2258T>C	XP_016872564.1:p.Val753Ala
XR_001747717.2:n.1517T>C
NM_153676.4:c.2258T>C MANE Select	NP_710142.1:p.Val753Ala
NM_001297764.2:c.1301T>C	NP_001284693.1:p.Val434Ala
NM_005709.4:c.1358T>C MANE Plus Clinical	NP_005700.2:p.Val453Ala
NR_123738.2:n.1393T>C