Canonical Allele Identifier: CA379772472

Gene: USH1C

Linked Data

• gnomAD v4: 11-17509375-C-A
• MyVariant Identifiers: chr11:g.17530922C>A (hg19) ; chr11:g.17509375C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509375C>A , CM000673.2:g.17509375C>A	GRCh38
NC_000011.9:g.17530922C>A , CM000673.1:g.17530922C>A	GRCh37
NC_000011.8:g.17487498C>A	NCBI36
NG_011883.1:g.40042G>T
NG_011883.2:g.40042G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.1994G>T MANE Select	ENSP00000005226.7:p.Ser665Ile
ENST00000318024.9:c.1285-7395G>T MANE Plus Clinical	ENSP00000317018.4:n.1285-7395G>T
ENST00000005226.11:c.1994G>T	ENSP00000005226.7:p.Ser665Ile
ENST00000318024.8:c.1285-7395G>T	ENSP00000317018.4:n.1285-7395G>T
ENST00000526313.5:c.1211-7395G>T	ENSP00000432236.1:n.1211-7395G>T
ENST00000527020.5:c.1228-7395G>T	ENSP00000436934.1:n.1228-7395G>T
ENST00000527720.5:c.1192-7395G>T	ENSP00000432944.1:n.1192-7395G>T
ENST00000529563.5:n.168+7080G>T
NM_001297764.1:c.1228-7395G>T	NP_001284693.1:n.1228-7395G>T
NM_005709.3:c.1285-7395G>T	NP_005700.2:n.1285-7395G>T
NM_153676.3:c.1994G>T	NP_710142.1:p.Ser665Ile
NR_123738.1:n.1320-7395G>T
XM_011519831.1:c.2018G>T	XP_011518133.1:p.Ser673Ile
XM_011519832.1:c.1437+2527G>T	XP_011518134.1:n.1437+2527G>T
XM_011519833.1:c.1334+6866G>T	XP_011518135.1:n.1334+6866G>T
XR_930841.1:n.1655+2527G>T
XR_930842.1:n.1596+2527G>T
XM_011519832.3:c.1437+2527G>T	XP_011518134.1:n.1437+2527G>T
XM_017017072.1:c.2018G>T	XP_016872561.1:p.Ser673Ile
XM_017017073.1:c.1961G>T	XP_016872562.1:p.Ser654Ile
XM_017017074.1:c.1555-146G>T	XP_016872563.1:n.1555-146G>T
XM_017017075.1:c.1994G>T	XP_016872564.1:p.Ser665Ile
XR_001747717.2:n.1443+6866G>T
NM_153676.4:c.1994G>T MANE Select	NP_710142.1:p.Ser665Ile
NM_001297764.2:c.1228-7395G>T	NP_001284693.1:n.1228-7395G>T
NM_005709.4:c.1285-7395G>T MANE Plus Clinical	NP_005700.2:n.1285-7395G>T
NR_123738.2:n.1320-7395G>T