Canonical Allele Identifier: CA374197727

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076990C>A , CM000671.2:g.98076990C>A GRCh38
NC_000009.11:g.100839272C>A , CM000671.1:g.100839272C>A GRCh37
NC_000009.10:g.99879093C>A NCBI36
NG_052789.1:g.25314C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.421C>A (NANS) MANE Select ENSP00000210444.5:p.Pro141Thr
ENST00000210444.5:c.421C>A (NANS) ENSP00000210444.5:p.Pro141Thr
ENST00000375098.7:c.*29-7303G>T (TRIM14) ENSP00000364239.3:n.*29-7303G>T
ENST00000415280.1:c.-134C>A (NANS) ENSP00000404107.1:n.-134C>A
ENST00000461452.1:n.2348C>A (NANS)
ENST00000495319.1:n.625C>A (NANS)
NM_018946.3:c.421C>A (NANS) NP_061819.2:p.Pro141Thr
XM_011518787.1:c.73C>A (NANS) XP_011517089.1:p.Pro25Thr
XM_011518788.1:c.45C>A (NANS) XP_011517090.1:p.Phe15Leu
XM_011518787.2:c.73C>A (NANS) XP_011517089.1:p.Pro25Thr
XM_011518788.2:c.45C>A (NANS) XP_011517090.1:p.Phe15Leu
XM_017014811.1:c.-134C>A (NANS) XP_016870300.1:n.-134C>A
XM_017015352.2:c.*29-4824G>T (TRIM14) XP_016870841.1:n.*29-4824G>T
XM_024447574.1:c.73C>A (NANS) XP_024303342.1:p.Pro25Thr
NM_018946.4:c.421C>A (NANS) MANE Select NP_061819.2:p.Pro141Thr