Canonical Allele Identifier: CA374197705

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076986T>G , CM000671.2:g.98076986T>G GRCh38
NC_000009.11:g.100839268T>G , CM000671.1:g.100839268T>G GRCh37
NC_000009.10:g.99879089T>G NCBI36
NG_052789.1:g.25310T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.417T>G (NANS) MANE Select ENSP00000210444.5:p.Asn139Lys
ENST00000210444.5:c.417T>G (NANS) ENSP00000210444.5:p.Asn139Lys
ENST00000375098.7:c.*29-7299A>C (TRIM14) ENSP00000364239.3:n.*29-7299A>C
ENST00000415280.1:c.-138T>G (NANS) ENSP00000404107.1:n.-138T>G
ENST00000461452.1:n.2344T>G (NANS)
ENST00000495319.1:n.621T>G (NANS)
NM_018946.3:c.417T>G (NANS) NP_061819.2:p.Asn139Lys
XM_011518787.1:c.69T>G (NANS) XP_011517089.1:p.Asn23Lys
XM_011518788.1:c.41T>G (NANS) XP_011517090.1:p.Ile14Ser
XM_011518787.2:c.69T>G (NANS) XP_011517089.1:p.Asn23Lys
XM_011518788.2:c.41T>G (NANS) XP_011517090.1:p.Ile14Ser
XM_017014811.1:c.-138T>G (NANS) XP_016870300.1:n.-138T>G
XM_017015352.2:c.*29-4820A>C (TRIM14) XP_016870841.1:n.*29-4820A>C
XM_024447574.1:c.69T>G (NANS) XP_024303342.1:p.Asn23Lys
NM_018946.4:c.417T>G (NANS) MANE Select NP_061819.2:p.Asn139Lys