Canonical Allele Identifier: CA379803220

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17522691A>G (hg19) ; chr11:g.17501144A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501144A>G , CM000673.2:g.17501144A>G	GRCh38
NC_000011.9:g.17522691A>G , CM000673.1:g.17522691A>G	GRCh37
NC_000011.8:g.17479267A>G	NCBI36
NG_011883.1:g.48273T>C
NG_011883.2:g.48273T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2287T>C MANE Select	ENSP00000005226.7:p.Ser763Pro
ENST00000318024.9:c.1387T>C MANE Plus Clinical	ENSP00000317018.4:p.Ser463Pro
ENST00000005226.11:c.2287T>C	ENSP00000005226.7:p.Ser763Pro
ENST00000318024.8:c.1387T>C	ENSP00000317018.4:p.Ser463Pro
ENST00000526313.5:c.*101T>C	ENSP00000432236.1:n.*101T>C
ENST00000527020.5:c.1330T>C	ENSP00000436934.1:p.Ser444Pro
ENST00000527720.5:c.1294T>C	ENSP00000432944.1:p.Ser432Pro
ENST00000529563.5:n.271T>C
ENST00000534556.1:n.172T>C
NM_001297764.1:c.1330T>C	NP_001284693.1:p.Ser444Pro
NM_005709.3:c.1387T>C	NP_005700.2:p.Ser463Pro
NM_153676.3:c.2287T>C	NP_710142.1:p.Ser763Pro
NR_123738.1:n.1422T>C
XM_011519831.1:c.2311T>C	XP_011518133.1:p.Ser771Pro
XM_011519832.1:c.1540T>C	XP_011518134.1:p.Ser514Pro
XM_011519833.1:c.1437T>C	XP_011518135.1:p.Asp479=
XR_930841.1:n.1758T>C
XR_930842.1:n.1699T>C
XM_011519832.3:c.1540T>C	XP_011518134.1:p.Ser514Pro
XM_017017075.1:c.2287T>C	XP_016872564.1:p.Ser763Pro
XR_001747717.2:n.1546T>C
NM_153676.4:c.2287T>C MANE Select	NP_710142.1:p.Ser763Pro
NM_001297764.2:c.1330T>C	NP_001284693.1:p.Ser444Pro
NM_005709.4:c.1387T>C MANE Plus Clinical	NP_005700.2:p.Ser463Pro
NR_123738.2:n.1422T>C