Canonical Allele Identifier: CA379803554

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17523066A>C (hg19) ; chr11:g.17501519A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501519A>C , CM000673.2:g.17501519A>C	GRCh38
NC_000011.9:g.17523066A>C , CM000673.1:g.17523066A>C	GRCh37
NC_000011.8:g.17479642A>C	NCBI36
NG_011883.1:g.47898T>G
NG_011883.2:g.47898T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2243T>G MANE Select	ENSP00000005226.7:p.Ile748Ser
ENST00000318024.9:c.1343T>G MANE Plus Clinical	ENSP00000317018.4:p.Ile448Ser
ENST00000005226.11:c.2243T>G	ENSP00000005226.7:p.Ile748Ser
ENST00000318024.8:c.1343T>G	ENSP00000317018.4:p.Ile448Ser
ENST00000526313.5:c.*57T>G	ENSP00000432236.1:n.*57T>G
ENST00000527020.5:c.1286T>G	ENSP00000436934.1:p.Ile429Ser
ENST00000527720.5:c.1250T>G	ENSP00000432944.1:p.Ile417Ser
ENST00000529563.5:n.227T>G
ENST00000534556.1:n.128T>G
NM_001297764.1:c.1286T>G	NP_001284693.1:p.Ile429Ser
NM_005709.3:c.1343T>G	NP_005700.2:p.Ile448Ser
NM_153676.3:c.2243T>G	NP_710142.1:p.Ile748Ser
NR_123738.1:n.1378T>G
XM_011519831.1:c.2267T>G	XP_011518133.1:p.Ile756Ser
XM_011519832.1:c.1496T>G	XP_011518134.1:p.Ile499Ser
XM_011519833.1:c.1393T>G	XP_011518135.1:p.Ser465Ala
XR_930841.1:n.1714T>G
XR_930842.1:n.1655T>G
XM_011519832.3:c.1496T>G	XP_011518134.1:p.Ile499Ser
XM_017017075.1:c.2243T>G	XP_016872564.1:p.Ile748Ser
XR_001747717.2:n.1502T>G
NM_153676.4:c.2243T>G MANE Select	NP_710142.1:p.Ile748Ser
NM_001297764.2:c.1286T>G	NP_001284693.1:p.Ile429Ser
NM_005709.4:c.1343T>G MANE Plus Clinical	NP_005700.2:p.Ile448Ser
NR_123738.2:n.1378T>G