Canonical Allele Identifier: CA2579396624

Linked Data

gnomAD v4: 9-98076836-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076836A>T , CM000671.2:g.98076836A>T GRCh38
NC_000009.11:g.100839118A>T , CM000671.1:g.100839118A>T GRCh37
NC_000009.10:g.99878939A>T NCBI36
NG_052789.1:g.25160A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.349-82A>T (NANS) MANE Select ENSP00000210444.5:n.349-82A>T
ENST00000210444.5:c.349-82A>T (NANS) ENSP00000210444.5:n.349-82A>T
ENST00000375098.7:c.*29-7149T>A (TRIM14) ENSP00000364239.3:n.*29-7149T>A
ENST00000415280.1:c.-288A>T (NANS) ENSP00000404107.1:n.-288A>T
ENST00000461452.1:n.2194A>T (NANS)
ENST00000495319.1:n.553-82A>T (NANS)
NM_018946.3:c.349-82A>T (NANS) NP_061819.2:n.349-82A>T
XM_011518787.1:c.1-82A>T (NANS) XP_011517089.1:n.1-82A>T
XM_011518787.2:c.1-82A>T (NANS) XP_011517089.1:n.1-82A>T
XM_017014811.1:c.-206-82A>T (NANS) XP_016870300.1:n.-206-82A>T
XM_017015352.2:c.*29-4670T>A (TRIM14) XP_016870841.1:n.*29-4670T>A
XM_024447574.1:c.-82A>T (NANS) XP_024303342.1:n.-82A>T
NM_018946.4:c.349-82A>T (NANS) MANE Select NP_061819.2:n.349-82A>T