Canonical Allele Identifier: CA374197518

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076955T>A , CM000671.2:g.98076955T>A GRCh38
NC_000009.11:g.100839237T>A , CM000671.1:g.100839237T>A GRCh37
NC_000009.10:g.99879058T>A NCBI36
NG_052789.1:g.25279T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.386T>A (NANS) MANE Select ENSP00000210444.5:p.Phe129Tyr
ENST00000210444.5:c.386T>A (NANS) ENSP00000210444.5:p.Phe129Tyr
ENST00000375098.7:c.*29-7268A>T (TRIM14) ENSP00000364239.3:n.*29-7268A>T
ENST00000415280.1:c.-169T>A (NANS) ENSP00000404107.1:n.-169T>A
ENST00000461452.1:n.2313T>A (NANS)
ENST00000495319.1:n.590T>A (NANS)
NM_018946.3:c.386T>A (NANS) NP_061819.2:p.Phe129Tyr
XM_011518787.1:c.38T>A (NANS) XP_011517089.1:p.Phe13Tyr
XM_011518788.1:c.10T>A (NANS) XP_011517090.1:p.Phe4Ile
XM_011518787.2:c.38T>A (NANS) XP_011517089.1:p.Phe13Tyr
XM_011518788.2:c.10T>A (NANS) XP_011517090.1:p.Phe4Ile
XM_017014811.1:c.-169T>A (NANS) XP_016870300.1:n.-169T>A
XM_017015352.2:c.*29-4789A>T (TRIM14) XP_016870841.1:n.*29-4789A>T
XM_024447574.1:c.38T>A (NANS) XP_024303342.1:p.Phe13Tyr
NM_018946.4:c.386T>A (NANS) MANE Select NP_061819.2:p.Phe129Tyr