Canonical Allele Identifier: CA379791089
Gene: USH1C HGNC NCBI

Linked Data

ClinVar Variation Id: 440392
ClinVar RCV Id: RCV000506416
dbSNP Id: rs1554961433

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.17524509G>A , CM000673.2:g.17524509G>A GRCh38
NC_000011.9:g.17546056G>A , CM000673.1:g.17546056G>A GRCh37
NC_000011.8:g.17502632G>A NCBI36
NG_011883.1:g.24908C>T
NG_011883.2:g.24908C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000005226.12:c.701C>T MANE Select ENSP00000005226.7:p.Pro234Leu
ENST00000318024.9:c.701C>T MANE Plus Clinical ENSP00000317018.4:p.Pro234Leu
ENST00000005226.11:c.701C>T ENSP00000005226.7:p.Pro234Leu
ENST00000318024.8:c.701C>T ENSP00000317018.4:p.Pro234Leu
ENST00000526181.1:c.734C>T ENSP00000437128.1:p.Pro245Leu
ENST00000526313.5:c.701C>T ENSP00000432236.1:p.Pro234Leu
ENST00000527020.5:c.701C>T ENSP00000436934.1:p.Pro234Leu
ENST00000527720.5:c.608C>T ENSP00000432944.1:p.Pro203Leu
NM_001297764.1:c.701C>T NP_001284693.1:p.Pro234Leu
NM_005709.3:c.701C>T NP_005700.2:p.Pro234Leu
NM_153676.3:c.701C>T NP_710142.1:p.Pro234Leu
NR_123738.1:n.810C>T
XM_011519831.1:c.701C>T XP_011518133.1:p.Pro234Leu
XM_011519832.1:c.701C>T XP_011518134.1:p.Pro234Leu
XM_011519833.1:c.701C>T XP_011518135.1:p.Pro234Leu
XM_011519834.1:c.701C>T XP_011518136.1:p.Pro234Leu
XR_930841.1:n.810C>T
XR_930842.1:n.810C>T
XM_011519832.3:c.701C>T XP_011518134.1:p.Pro234Leu
XM_011519834.2:c.701C>T XP_011518136.1:p.Pro234Leu
XM_017017072.1:c.701C>T XP_016872561.1:p.Pro234Leu
XM_017017073.1:c.701C>T XP_016872562.1:p.Pro234Leu
XM_017017074.1:c.701C>T XP_016872563.1:p.Pro234Leu
XM_017017075.1:c.701C>T XP_016872564.1:p.Pro234Leu
XR_001747717.2:n.810C>T
NM_153676.4:c.701C>T MANE Select NP_710142.1:p.Pro234Leu
NM_001297764.2:c.701C>T NP_001284693.1:p.Pro234Leu
NM_005709.4:c.701C>T MANE Plus Clinical NP_005700.2:p.Pro234Leu
NR_123738.2:n.810C>T