Canonical Allele Identifier: CA379800814

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17519753C>G (hg19) ; chr11:g.17498206C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498206C>G , CM000673.2:g.17498206C>G	GRCh38
NC_000011.9:g.17519753C>G , CM000673.1:g.17519753C>G	GRCh37
NC_000011.8:g.17476329C>G	NCBI36
NG_011883.1:g.51211G>C
NG_011883.2:g.51211G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2446G>C MANE Select	ENSP00000005226.7:p.Ala816Pro
ENST00000318024.9:c.1546G>C MANE Plus Clinical	ENSP00000317018.4:p.Ala516Pro
ENST00000005226.11:c.2446G>C	ENSP00000005226.7:p.Ala816Pro
ENST00000318024.8:c.1546G>C	ENSP00000317018.4:p.Ala516Pro
ENST00000526313.5:c.*260G>C	ENSP00000432236.1:n.*260G>C
ENST00000527020.5:c.1489G>C	ENSP00000436934.1:p.Ala497Pro
ENST00000527720.5:c.1453G>C	ENSP00000432944.1:p.Ala485Pro
ENST00000529563.5:n.430G>C
NM_001297764.1:c.1489G>C	NP_001284693.1:p.Ala497Pro
NM_005709.3:c.1546G>C	NP_005700.2:p.Ala516Pro
NM_153676.3:c.2446G>C	NP_710142.1:p.Ala816Pro
NR_123738.1:n.1581G>C
XM_011519831.1:c.2470G>C	XP_011518133.1:p.Ala824Pro
XM_011519832.1:c.1699G>C	XP_011518134.1:p.Ala567Pro
XM_011519832.3:c.1699G>C	XP_011518134.1:p.Ala567Pro
XM_017017075.1:c.2446G>C	XP_016872564.1:p.Ala816Pro
XR_001747717.2:n.1705G>C
NM_153676.4:c.2446G>C MANE Select	NP_710142.1:p.Ala816Pro
NM_001297764.2:c.1489G>C	NP_001284693.1:p.Ala497Pro
NM_005709.4:c.1546G>C MANE Plus Clinical	NP_005700.2:p.Ala516Pro
NR_123738.2:n.1581G>C