Canonical Allele Identifier: CA374197764

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076997T>G , CM000671.2:g.98076997T>G GRCh38
NC_000009.11:g.100839279T>G , CM000671.1:g.100839279T>G GRCh37
NC_000009.10:g.99879100T>G NCBI36
NG_052789.1:g.25321T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.428T>G (NANS) MANE Select ENSP00000210444.5:p.Leu143Arg
ENST00000210444.5:c.428T>G (NANS) ENSP00000210444.5:p.Leu143Arg
ENST00000375098.7:c.*29-7310A>C (TRIM14) ENSP00000364239.3:n.*29-7310A>C
ENST00000415280.1:c.-127T>G (NANS) ENSP00000404107.1:n.-127T>G
ENST00000461452.1:n.2355T>G (NANS)
ENST00000495319.1:n.632T>G (NANS)
NM_018946.3:c.428T>G (NANS) NP_061819.2:p.Leu143Arg
XM_011518787.1:c.80T>G (NANS) XP_011517089.1:p.Leu27Arg
XM_011518788.1:c.52T>G (NANS) XP_011517090.1:p.Trp18Gly
XM_011518787.2:c.80T>G (NANS) XP_011517089.1:p.Leu27Arg
XM_011518788.2:c.52T>G (NANS) XP_011517090.1:p.Trp18Gly
XM_017014811.1:c.-127T>G (NANS) XP_016870300.1:n.-127T>G
XM_017015352.2:c.*29-4831A>C (TRIM14) XP_016870841.1:n.*29-4831A>C
XM_024447574.1:c.80T>G (NANS) XP_024303342.1:p.Leu27Arg
NM_018946.4:c.428T>G (NANS) MANE Select NP_061819.2:p.Leu143Arg