Canonical Allele Identifier: CA374197586

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076961A>T , CM000671.2:g.98076961A>T GRCh38
NC_000009.11:g.100839243A>T , CM000671.1:g.100839243A>T GRCh37
NC_000009.10:g.99879064A>T NCBI36
NG_052789.1:g.25285A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.392A>T (NANS) MANE Select ENSP00000210444.5:p.Lys131Ile
ENST00000210444.5:c.392A>T (NANS) ENSP00000210444.5:p.Lys131Ile
ENST00000375098.7:c.*29-7274T>A (TRIM14) ENSP00000364239.3:n.*29-7274T>A
ENST00000415280.1:c.-163A>T (NANS) ENSP00000404107.1:n.-163A>T
ENST00000461452.1:n.2319A>T (NANS)
ENST00000495319.1:n.596A>T (NANS)
NM_018946.3:c.392A>T (NANS) NP_061819.2:p.Lys131Ile
XM_011518787.1:c.44A>T (NANS) XP_011517089.1:p.Lys15Ile
XM_011518788.1:c.16A>T (NANS) XP_011517090.1:p.Lys6Ter
XM_011518787.2:c.44A>T (NANS) XP_011517089.1:p.Lys15Ile
XM_011518788.2:c.16A>T (NANS) XP_011517090.1:p.Lys6Ter
XM_017014811.1:c.-163A>T (NANS) XP_016870300.1:n.-163A>T
XM_017015352.2:c.*29-4795T>A (TRIM14) XP_016870841.1:n.*29-4795T>A
XM_024447574.1:c.44A>T (NANS) XP_024303342.1:p.Lys15Ile
NM_018946.4:c.392A>T (NANS) MANE Select NP_061819.2:p.Lys131Ile