Canonical Allele Identifier: CA374197245

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076921G>T , CM000671.2:g.98076921G>T GRCh38
NC_000009.11:g.100839203G>T , CM000671.1:g.100839203G>T GRCh37
NC_000009.10:g.99879024G>T NCBI36
NG_052789.1:g.25245G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.352G>T (NANS) MANE Select ENSP00000210444.5:p.Ala118Ser
ENST00000210444.5:c.352G>T (NANS) ENSP00000210444.5:p.Ala118Ser
ENST00000375098.7:c.*29-7234C>A (TRIM14) ENSP00000364239.3:n.*29-7234C>A
ENST00000415280.1:c.-203G>T (NANS) ENSP00000404107.1:n.-203G>T
ENST00000461452.1:n.2279G>T (NANS)
ENST00000495319.1:n.556G>T (NANS)
NM_018946.3:c.352G>T (NANS) NP_061819.2:p.Ala118Ser
XM_011518787.1:c.4G>T (NANS) XP_011517089.1:p.Ala2Ser
XM_011518787.2:c.4G>T (NANS) XP_011517089.1:p.Ala2Ser
XM_017014811.1:c.-203G>T (NANS) XP_016870300.1:n.-203G>T
XM_017015352.2:c.*29-4755C>A (TRIM14) XP_016870841.1:n.*29-4755C>A
XM_024447574.1:c.4G>T (NANS) XP_024303342.1:p.Ala2Ser
NM_018946.4:c.352G>T (NANS) MANE Select NP_061819.2:p.Ala118Ser