Canonical Allele Identifier: CA2579396632

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076882A>T , CM000671.2:g.98076882A>T GRCh38
NC_000009.11:g.100839164A>T , CM000671.1:g.100839164A>T GRCh37
NC_000009.10:g.99878985A>T NCBI36
NG_052789.1:g.25206A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000210444.6:c.349-36A>T (NANS) MANE Select ENSP00000210444.5:n.349-36A>T
ENST00000210444.5:c.349-36A>T (NANS) ENSP00000210444.5:n.349-36A>T
ENST00000375098.7:c.*29-7195T>A (TRIM14) ENSP00000364239.3:n.*29-7195T>A
ENST00000415280.1:c.-242A>T (NANS) ENSP00000404107.1:n.-242A>T
ENST00000461452.1:n.2240A>T (NANS)
ENST00000495319.1:n.553-36A>T (NANS)
NM_018946.3:c.349-36A>T (NANS) NP_061819.2:n.349-36A>T
XM_011518787.1:c.1-36A>T (NANS) XP_011517089.1:n.1-36A>T
XM_011518787.2:c.1-36A>T (NANS) XP_011517089.1:n.1-36A>T
XM_017014811.1:c.-206-36A>T (NANS) XP_016870300.1:n.-206-36A>T
XM_017015352.2:c.*29-4716T>A (TRIM14) XP_016870841.1:n.*29-4716T>A
XM_024447574.1:c.-36A>T (NANS) XP_024303342.1:n.-36A>T
NM_018946.4:c.349-36A>T (NANS) MANE Select NP_061819.2:n.349-36A>T