Canonical Allele Identifier: CA379772922

Gene: USH1C

Linked Data

• gnomAD v4: 11-17509424-C-A
• MyVariant Identifiers: chr11:g.17530971C>A (hg19) ; chr11:g.17509424C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509424C>A , CM000673.2:g.17509424C>A	GRCh38
NC_000011.9:g.17530971C>A , CM000673.1:g.17530971C>A	GRCh37
NC_000011.8:g.17487547C>A	NCBI36
NG_011883.1:g.39993G>T
NG_011883.2:g.39993G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1945G>T MANE Select	ENSP00000005226.7:p.Ala649Ser
ENST00000318024.9:c.1285-7444G>T MANE Plus Clinical	ENSP00000317018.4:n.1285-7444G>T
ENST00000005226.11:c.1945G>T	ENSP00000005226.7:p.Ala649Ser
ENST00000318024.8:c.1285-7444G>T	ENSP00000317018.4:n.1285-7444G>T
ENST00000526313.5:c.1211-7444G>T	ENSP00000432236.1:n.1211-7444G>T
ENST00000527020.5:c.1228-7444G>T	ENSP00000436934.1:n.1228-7444G>T
ENST00000527720.5:c.1192-7444G>T	ENSP00000432944.1:n.1192-7444G>T
ENST00000529563.5:n.168+7031G>T
NM_001297764.1:c.1228-7444G>T	NP_001284693.1:n.1228-7444G>T
NM_005709.3:c.1285-7444G>T	NP_005700.2:n.1285-7444G>T
NM_153676.3:c.1945G>T	NP_710142.1:p.Ala649Ser
NR_123738.1:n.1320-7444G>T
XM_011519831.1:c.1969G>T	XP_011518133.1:p.Ala657Ser
XM_011519832.1:c.1437+2478G>T	XP_011518134.1:n.1437+2478G>T
XM_011519833.1:c.1334+6817G>T	XP_011518135.1:n.1334+6817G>T
XR_930841.1:n.1655+2478G>T
XR_930842.1:n.1596+2478G>T
XM_011519832.3:c.1437+2478G>T	XP_011518134.1:n.1437+2478G>T
XM_017017072.1:c.1969G>T	XP_016872561.1:p.Ala657Ser
XM_017017073.1:c.1912G>T	XP_016872562.1:p.Ala638Ser
XM_017017074.1:c.1555-195G>T	XP_016872563.1:n.1555-195G>T
XM_017017075.1:c.1945G>T	XP_016872564.1:p.Ala649Ser
XR_001747717.2:n.1443+6817G>T
NM_153676.4:c.1945G>T MANE Select	NP_710142.1:p.Ala649Ser
NM_001297764.2:c.1228-7444G>T	NP_001284693.1:n.1228-7444G>T
NM_005709.4:c.1285-7444G>T MANE Plus Clinical	NP_005700.2:n.1285-7444G>T
NR_123738.2:n.1320-7444G>T