Canonical Allele Identifier: CA466419803

Linked Data

dbSNP Id: rs1483181646
gnomAD v3: 9-98076992-T-A
gnomAD v4: 9-98076992-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076992T>A , CM000671.2:g.98076992T>A GRCh38
NC_000009.11:g.100839274T>A , CM000671.1:g.100839274T>A GRCh37
NC_000009.10:g.99879095T>A NCBI36
NG_052789.1:g.25316T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.423T>A (NANS) MANE Select ENSP00000210444.5:p.Pro141=
ENST00000210444.5:c.423T>A (NANS) ENSP00000210444.5:p.Pro141=
ENST00000375098.7:c.*29-7305A>T (TRIM14) ENSP00000364239.3:n.*29-7305A>T
ENST00000415280.1:c.-132T>A (NANS) ENSP00000404107.1:n.-132T>A
ENST00000461452.1:n.2350T>A (NANS)
ENST00000495319.1:n.627T>A (NANS)
NM_018946.3:c.423T>A (NANS) NP_061819.2:p.Pro141=
XM_011518787.1:c.75T>A (NANS) XP_011517089.1:p.Pro25=
XM_011518788.1:c.47T>A (NANS) XP_011517090.1:p.Leu16His
XM_011518787.2:c.75T>A (NANS) XP_011517089.1:p.Pro25=
XM_011518788.2:c.47T>A (NANS) XP_011517090.1:p.Leu16His
XM_017014811.1:c.-132T>A (NANS) XP_016870300.1:n.-132T>A
XM_017015352.2:c.*29-4826A>T (TRIM14) XP_016870841.1:n.*29-4826A>T
XM_024447574.1:c.75T>A (NANS) XP_024303342.1:p.Pro25=
NM_018946.4:c.423T>A (NANS) MANE Select NP_061819.2:p.Pro141=