Canonical Allele Identifier: CA473305351

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17522677G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501130G>C , CM000673.2:g.17501130G>C	GRCh38
NC_000011.9:g.17522677G>C , CM000673.1:g.17522677G>C	GRCh37
NC_000011.8:g.17479253G>C	NCBI36
NG_011883.1:g.48287C>G
NG_011883.2:g.48287C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2301C>G MANE Select	ENSP00000005226.7:p.Ala767=
ENST00000318024.9:c.1401C>G MANE Plus Clinical	ENSP00000317018.4:p.Ala467=
ENST00000005226.11:c.2301C>G	ENSP00000005226.7:p.Ala767=
ENST00000318024.8:c.1401C>G	ENSP00000317018.4:p.Ala467=
ENST00000526313.5:c.*115C>G	ENSP00000432236.1:n.*115C>G
ENST00000527020.5:c.1344C>G	ENSP00000436934.1:p.Ala448=
ENST00000527720.5:c.1308C>G	ENSP00000432944.1:p.Ala436=
ENST00000529563.5:n.285C>G
ENST00000534556.1:n.186C>G
NM_001297764.1:c.1344C>G	NP_001284693.1:p.Ala448=
NM_005709.3:c.1401C>G	NP_005700.2:p.Ala467=
NM_153676.3:c.2301C>G	NP_710142.1:p.Ala767=
NR_123738.1:n.1436C>G
XM_011519831.1:c.2325C>G	XP_011518133.1:p.Ala775=
XM_011519832.1:c.1554C>G	XP_011518134.1:p.Ala518=
XM_011519833.1:c.*8C>G	XP_011518135.1:n.*8C>G
XR_930841.1:n.1772C>G
XR_930842.1:n.1713C>G
XM_011519832.3:c.1554C>G	XP_011518134.1:p.Ala518=
XM_017017075.1:c.2301C>G	XP_016872564.1:p.Ala767=
XR_001747717.2:n.1560C>G
NM_153676.4:c.2301C>G MANE Select	NP_710142.1:p.Ala767=
NM_001297764.2:c.1344C>G	NP_001284693.1:p.Ala448=
NM_005709.4:c.1401C>G MANE Plus Clinical	NP_005700.2:p.Ala467=
NR_123738.2:n.1436C>G