Canonical Allele Identifier: CA379800419

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17519722C>A (hg19) ; chr11:g.17498175C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498175C>A , CM000673.2:g.17498175C>A	GRCh38
NC_000011.9:g.17519722C>A , CM000673.1:g.17519722C>A	GRCh37
NC_000011.8:g.17476298C>A	NCBI36
NG_011883.1:g.51242G>T
NG_011883.2:g.51242G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2477G>T MANE Select	ENSP00000005226.7:p.Trp826Leu
ENST00000318024.9:c.1577G>T MANE Plus Clinical	ENSP00000317018.4:p.Trp526Leu
ENST00000005226.11:c.2477G>T	ENSP00000005226.7:p.Trp826Leu
ENST00000318024.8:c.1577G>T	ENSP00000317018.4:p.Trp526Leu
ENST00000526313.5:c.*291G>T	ENSP00000432236.1:n.*291G>T
ENST00000527020.5:c.1520G>T	ENSP00000436934.1:p.Trp507Leu
ENST00000527720.5:c.1484G>T	ENSP00000432944.1:p.Trp495Leu
ENST00000529563.5:n.461G>T
NM_001297764.1:c.1520G>T	NP_001284693.1:p.Trp507Leu
NM_005709.3:c.1577G>T	NP_005700.2:p.Trp526Leu
NM_153676.3:c.2477G>T	NP_710142.1:p.Trp826Leu
NR_123738.1:n.1612G>T
XM_011519831.1:c.2501G>T	XP_011518133.1:p.Trp834Leu
XM_011519832.1:c.1730G>T	XP_011518134.1:p.Trp577Leu
XM_011519832.3:c.1730G>T	XP_011518134.1:p.Trp577Leu
XM_017017075.1:c.2477G>T	XP_016872564.1:p.Trp826Leu
XR_001747717.2:n.1736G>T
NM_153676.4:c.2477G>T MANE Select	NP_710142.1:p.Trp826Leu
NM_001297764.2:c.1520G>T	NP_001284693.1:p.Trp507Leu
NM_005709.4:c.1577G>T MANE Plus Clinical	NP_005700.2:p.Trp526Leu
NR_123738.2:n.1612G>T