Canonical Allele Identifier: CA473302274

Gene: USH1C

Linked Data

• dbSNP Id: rs199739341
• gnomAD v4: 11-17527024-G-T
• MyVariant Identifiers: chr11:g.17548571G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17527024G>T , CM000673.2:g.17527024G>T	GRCh38
NC_000011.9:g.17548571G>T , CM000673.1:g.17548571G>T	GRCh37
NC_000011.8:g.17505147G>T	NCBI36
NG_011883.1:g.22393C>A
NG_011883.2:g.22393C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.513C>A MANE Select	ENSP00000005226.7:p.Pro171=
ENST00000318024.9:c.513C>A MANE Plus Clinical	ENSP00000317018.4:p.Pro171=
ENST00000005226.11:c.513C>A	ENSP00000005226.7:p.Pro171=
ENST00000318024.8:c.513C>A	ENSP00000317018.4:p.Pro171=
ENST00000526181.1:c.546C>A	ENSP00000437128.1:p.Pro182=
ENST00000526313.5:c.513C>A	ENSP00000432236.1:p.Pro171=
ENST00000527020.5:c.513C>A	ENSP00000436934.1:p.Pro171=
ENST00000527720.5:c.420C>A	ENSP00000432944.1:p.Pro140=
NM_001297764.1:c.513C>A	NP_001284693.1:p.Pro171=
NM_005709.3:c.513C>A	NP_005700.2:p.Pro171=
NM_153676.3:c.513C>A	NP_710142.1:p.Pro171=
NR_123738.1:n.622C>A
XM_011519831.1:c.513C>A	XP_011518133.1:p.Pro171=
XM_011519832.1:c.513C>A	XP_011518134.1:p.Pro171=
XM_011519833.1:c.513C>A	XP_011518135.1:p.Pro171=
XM_011519834.1:c.513C>A	XP_011518136.1:p.Pro171=
XR_930841.1:n.622C>A
XR_930842.1:n.622C>A
XM_011519832.3:c.513C>A	XP_011518134.1:p.Pro171=
XM_011519834.2:c.513C>A	XP_011518136.1:p.Pro171=
XM_017017072.1:c.513C>A	XP_016872561.1:p.Pro171=
XM_017017073.1:c.513C>A	XP_016872562.1:p.Pro171=
XM_017017074.1:c.513C>A	XP_016872563.1:p.Pro171=
XM_017017075.1:c.513C>A	XP_016872564.1:p.Pro171=
XR_001747717.2:n.622C>A
NM_153676.4:c.513C>A MANE Select	NP_710142.1:p.Pro171=
NM_001297764.2:c.513C>A	NP_001284693.1:p.Pro171=
NM_005709.4:c.513C>A MANE Plus Clinical	NP_005700.2:p.Pro171=
NR_123738.2:n.622C>A