Canonical Allele Identifier: CA402254592
Gene: RNF125 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.32042196G>T , CM000680.2:g.32042196G>T GRCh38
NC_000018.9:g.29622159G>T , CM000680.1:g.29622159G>T GRCh37
NC_000018.8:g.27876157G>T NCBI36
NG_042056.1:g.28715G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000217740.4:c.336G>T MANE Select ENSP00000217740.3:p.Met112Ile
ENST00000217740.3:c.336G>T ENSP00000217740.3:p.Met112Ile
ENST00000580209.1:c.86-3446G>T
ENST00000580863.1:n.118G>T
ENST00000583384.5:n.179G>T
ENST00000583814.5:n.291G>T
NM_017831.3:c.336G>T NP_060301.2:p.Met112Ile
XM_011526045.1:c.336G>T XP_011524347.1:p.Met112Ile
XM_011526046.1:c.336G>T XP_011524348.1:p.Met112Ile
XM_011526047.1:c.336G>T XP_011524349.1:p.Met112Ile
XM_011526045.3:c.336G>T XP_011524347.1:p.Met112Ile
XM_011526046.3:c.336G>T XP_011524348.1:p.Met112Ile
XM_011526047.3:c.336G>T XP_011524349.1:p.Met112Ile
NM_017831.4:c.336G>T MANE Select NP_060301.2:p.Met112Ile