Canonical Allele Identifier: CA374197248

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076922C>A , CM000671.2:g.98076922C>A GRCh38
NC_000009.11:g.100839204C>A , CM000671.1:g.100839204C>A GRCh37
NC_000009.10:g.99879025C>A NCBI36
NG_052789.1:g.25246C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.353C>A (NANS) MANE Select ENSP00000210444.5:p.Ala118Glu
ENST00000210444.5:c.353C>A (NANS) ENSP00000210444.5:p.Ala118Glu
ENST00000375098.7:c.*29-7235G>T (TRIM14) ENSP00000364239.3:n.*29-7235G>T
ENST00000415280.1:c.-202C>A (NANS) ENSP00000404107.1:n.-202C>A
ENST00000461452.1:n.2280C>A (NANS)
ENST00000495319.1:n.557C>A (NANS)
NM_018946.3:c.353C>A (NANS) NP_061819.2:p.Ala118Glu
XM_011518787.1:c.5C>A (NANS) XP_011517089.1:p.Ala2Glu
XM_011518787.2:c.5C>A (NANS) XP_011517089.1:p.Ala2Glu
XM_017014811.1:c.-202C>A (NANS) XP_016870300.1:n.-202C>A
XM_017015352.2:c.*29-4756G>T (TRIM14) XP_016870841.1:n.*29-4756G>T
XM_024447574.1:c.5C>A (NANS) XP_024303342.1:p.Ala2Glu
NM_018946.4:c.353C>A (NANS) MANE Select NP_061819.2:p.Ala118Glu