Canonical Allele Identifier: CA5904793

Gene: USH1C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17522896G>A , CM000673.2:g.17522896G>A	GRCh38
NC_000011.9:g.17544443G>A , CM000673.1:g.17544443G>A	GRCh37
NC_000011.8:g.17501019G>A	NCBI36
NG_011883.1:g.26521C>T
NG_011883.2:g.26521C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_153676.4:c.907C>T MANE Select	NP_710142.1:p.Arg303Trp
ENST00000005226.12:c.907C>T MANE Select	ENSP00000005226.7:p.Arg303Trp
NM_005709.4:c.907C>T MANE Plus Clinical	NP_005700.2:p.Arg303Trp
ENST00000318024.9:c.907C>T MANE Plus Clinical	ENSP00000317018.4:p.Arg303Trp
NM_001297764.1:c.850C>T	NP_001284693.1:p.Arg284Trp
NM_001297764.2:c.850C>T	NP_001284693.1:p.Arg284Trp
NM_005709.3:c.907C>T	NP_005700.2:p.Arg303Trp
NM_153676.3:c.907C>T	NP_710142.1:p.Arg303Trp
NR_123738.1:n.1016C>T
NR_123738.2:n.1016C>T
ENST00000005226.11:c.907C>T	ENSP00000005226.7:p.Arg303Trp
ENST00000318024.8:c.907C>T	ENSP00000317018.4:p.Arg303Trp
ENST00000526181.1:c.940C>T	ENSP00000437128.1:p.Arg314Trp
ENST00000526313.5:c.907C>T	ENSP00000432236.1:p.Arg303Trp
ENST00000527020.5:c.850C>T	ENSP00000436934.1:p.Arg284Trp
ENST00000527720.5:c.814C>T	ENSP00000432944.1:p.Arg272Trp
XM_011519831.1:c.907C>T	XP_011518133.1:p.Arg303Trp
XM_011519832.1:c.907C>T	XP_011518134.1:p.Arg303Trp
XM_011519832.3:c.907C>T	XP_011518134.1:p.Arg303Trp
XM_011519833.1:c.907C>T	XP_011518135.1:p.Arg303Trp
XM_011519834.1:c.907C>T	XP_011518136.1:p.Arg303Trp
XM_011519834.2:c.907C>T	XP_011518136.1:p.Arg303Trp
XM_017017072.1:c.907C>T	XP_016872561.1:p.Arg303Trp
XM_017017073.1:c.850C>T	XP_016872562.1:p.Arg284Trp
XM_017017074.1:c.907C>T	XP_016872563.1:p.Arg303Trp
XM_017017075.1:c.907C>T	XP_016872564.1:p.Arg303Trp
XR_001747717.2:n.1016C>T
XR_930841.1:n.1016C>T
XR_930842.1:n.1016C>T