Canonical Allele Identifier: CA374197627

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076970C>A , CM000671.2:g.98076970C>A GRCh38
NC_000009.11:g.100839252C>A , CM000671.1:g.100839252C>A GRCh37
NC_000009.10:g.99879073C>A NCBI36
NG_052789.1:g.25294C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000210444.6:c.401C>A (NANS) MANE Select ENSP00000210444.5:p.Ser134Tyr
ENST00000210444.5:c.401C>A (NANS) ENSP00000210444.5:p.Ser134Tyr
ENST00000375098.7:c.*29-7283G>T (TRIM14) ENSP00000364239.3:n.*29-7283G>T
ENST00000415280.1:c.-154C>A (NANS) ENSP00000404107.1:n.-154C>A
ENST00000461452.1:n.2328C>A (NANS)
ENST00000495319.1:n.605C>A (NANS)
NM_018946.3:c.401C>A (NANS) NP_061819.2:p.Ser134Tyr
XM_011518787.1:c.53C>A (NANS) XP_011517089.1:p.Ser18Tyr
XM_011518788.1:c.25C>A (NANS) XP_011517090.1:p.Leu9Met
XM_011518787.2:c.53C>A (NANS) XP_011517089.1:p.Ser18Tyr
XM_011518788.2:c.25C>A (NANS) XP_011517090.1:p.Leu9Met
XM_017014811.1:c.-154C>A (NANS) XP_016870300.1:n.-154C>A
XM_017015352.2:c.*29-4804G>T (TRIM14) XP_016870841.1:n.*29-4804G>T
XM_024447574.1:c.53C>A (NANS) XP_024303342.1:p.Ser18Tyr
NM_018946.4:c.401C>A (NANS) MANE Select NP_061819.2:p.Ser134Tyr