Canonical Allele Identifier: CA709724

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26913819C>T , CM000663.2:g.26913819C>T GRCh38
NC_000001.10:g.27240310C>T , CM000663.1:g.27240310C>T GRCh37
NC_000001.9:g.27112897C>T NCBI36
NG_012143.1:g.5258G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000254227.4:c.122G>A (NR0B2) MANE Select ENSP00000254227.3:p.Cys41Tyr
ENST00000254227.3:c.122G>A (NR0B2) ENSP00000254227.3:p.Cys41Tyr
ENST00000435827.6:c.93+2584C>T (NUDC) ENSP00000404020.2:n.93+2584C>T
NM_021969.2:c.122G>A (NR0B2) NP_068804.1:p.Cys41Tyr
XM_011540529.1:c.93+2584C>T (NUDC) XP_011538831.1:n.93+2584C>T
XM_011542297.1:c.122G>A (NR0B2) XP_011540599.1:p.Cys41Tyr
XM_011542297.3:c.122G>A (NR0B2) XP_011540599.1:p.Cys41Tyr
XM_017000094.1:c.93+2584C>T (NUDC) XP_016855583.1:n.93+2584C>T
XM_024452486.1:c.93+2584C>T (NUDC) XP_024308254.1:n.93+2584C>T
NM_021969.3:c.122G>A (NR0B2) MANE Select NP_068804.1:p.Cys41Tyr