Canonical Allele Identifier: CA379803568

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17523069T>A (hg19) ; chr11:g.17501522T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501522T>A , CM000673.2:g.17501522T>A	GRCh38
NC_000011.9:g.17523069T>A , CM000673.1:g.17523069T>A	GRCh37
NC_000011.8:g.17479645T>A	NCBI36
NG_011883.1:g.47895A>T
NG_011883.2:g.47895A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2240A>T MANE Select	ENSP00000005226.7:p.Gln747Leu
ENST00000318024.9:c.1340A>T MANE Plus Clinical	ENSP00000317018.4:p.Gln447Leu
ENST00000005226.11:c.2240A>T	ENSP00000005226.7:p.Gln747Leu
ENST00000318024.8:c.1340A>T	ENSP00000317018.4:p.Gln447Leu
ENST00000526313.5:c.*54A>T	ENSP00000432236.1:n.*54A>T
ENST00000527020.5:c.1283A>T	ENSP00000436934.1:p.Gln428Leu
ENST00000527720.5:c.1247A>T	ENSP00000432944.1:p.Gln416Leu
ENST00000529563.5:n.224A>T
ENST00000534556.1:n.125A>T
NM_001297764.1:c.1283A>T	NP_001284693.1:p.Gln428Leu
NM_005709.3:c.1340A>T	NP_005700.2:p.Gln447Leu
NM_153676.3:c.2240A>T	NP_710142.1:p.Gln747Leu
NR_123738.1:n.1375A>T
XM_011519831.1:c.2264A>T	XP_011518133.1:p.Gln755Leu
XM_011519832.1:c.1493A>T	XP_011518134.1:p.Gln498Leu
XM_011519833.1:c.1390A>T	XP_011518135.1:p.Arg464Ter
XR_930841.1:n.1711A>T
XR_930842.1:n.1652A>T
XM_011519832.3:c.1493A>T	XP_011518134.1:p.Gln498Leu
XM_017017075.1:c.2240A>T	XP_016872564.1:p.Gln747Leu
XR_001747717.2:n.1499A>T
NM_153676.4:c.2240A>T MANE Select	NP_710142.1:p.Gln747Leu
NM_001297764.2:c.1283A>T	NP_001284693.1:p.Gln428Leu
NM_005709.4:c.1340A>T MANE Plus Clinical	NP_005700.2:p.Gln447Leu
NR_123738.2:n.1375A>T