Canonical Allele Identifier: CA473516495

Gene: USH1C

Linked Data

• dbSNP Id: rs1849782574
• gnomAD v3: 11-17509569-T-G
• gnomAD v4: 11-17509569-T-G
• MyVariant Identifiers: chr11:g.17531116T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509569T>G , CM000673.2:g.17509569T>G	GRCh38
NC_000011.9:g.17531116T>G , CM000673.1:g.17531116T>G	GRCh37
NC_000011.8:g.17487692T>G	NCBI36
NG_011883.1:g.39848A>C
NG_011883.2:g.39848A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1800A>C MANE Select	ENSP00000005226.7:p.Pro600=
ENST00000318024.9:c.1285-7589A>C MANE Plus Clinical	ENSP00000317018.4:n.1285-7589A>C
ENST00000005226.11:c.1800A>C	ENSP00000005226.7:p.Pro600=
ENST00000318024.8:c.1285-7589A>C	ENSP00000317018.4:n.1285-7589A>C
ENST00000526313.5:c.1211-7589A>C	ENSP00000432236.1:n.1211-7589A>C
ENST00000527020.5:c.1228-7589A>C	ENSP00000436934.1:n.1228-7589A>C
ENST00000527720.5:c.1192-7589A>C	ENSP00000432944.1:n.1192-7589A>C
ENST00000529563.5:n.168+6886A>C
NM_001297764.1:c.1228-7589A>C	NP_001284693.1:n.1228-7589A>C
NM_005709.3:c.1285-7589A>C	NP_005700.2:n.1285-7589A>C
NM_153676.3:c.1800A>C	NP_710142.1:p.Pro600=
NR_123738.1:n.1320-7589A>C
XM_011519831.1:c.1824A>C	XP_011518133.1:p.Pro608=
XM_011519832.1:c.1437+2333A>C	XP_011518134.1:n.1437+2333A>C
XM_011519833.1:c.1334+6672A>C	XP_011518135.1:n.1334+6672A>C
XR_930841.1:n.1655+2333A>C
XR_930842.1:n.1596+2333A>C
XM_011519832.3:c.1437+2333A>C	XP_011518134.1:n.1437+2333A>C
XM_017017072.1:c.1824A>C	XP_016872561.1:p.Pro608=
XM_017017073.1:c.1767A>C	XP_016872562.1:p.Pro589=
XM_017017074.1:c.1555-340A>C	XP_016872563.1:n.1555-340A>C
XM_017017075.1:c.1800A>C	XP_016872564.1:p.Pro600=
XR_001747717.2:n.1443+6672A>C
NM_153676.4:c.1800A>C MANE Select	NP_710142.1:p.Pro600=
NM_001297764.2:c.1228-7589A>C	NP_001284693.1:n.1228-7589A>C
NM_005709.4:c.1285-7589A>C MANE Plus Clinical	NP_005700.2:n.1285-7589A>C
NR_123738.2:n.1320-7589A>C