Canonical Allele Identifier: CA374197338

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076931T>G , CM000671.2:g.98076931T>G GRCh38
NC_000009.11:g.100839213T>G , CM000671.1:g.100839213T>G GRCh37
NC_000009.10:g.99879034T>G NCBI36
NG_052789.1:g.25255T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.362T>G (NANS) MANE Select ENSP00000210444.5:p.Phe121Cys
ENST00000210444.5:c.362T>G (NANS) ENSP00000210444.5:p.Phe121Cys
ENST00000375098.7:c.*29-7244A>C (TRIM14) ENSP00000364239.3:n.*29-7244A>C
ENST00000415280.1:c.-193T>G (NANS) ENSP00000404107.1:n.-193T>G
ENST00000461452.1:n.2289T>G (NANS)
ENST00000495319.1:n.566T>G (NANS)
NM_018946.3:c.362T>G (NANS) NP_061819.2:p.Phe121Cys
XM_011518787.1:c.14T>G (NANS) XP_011517089.1:p.Phe5Cys
XM_011518787.2:c.14T>G (NANS) XP_011517089.1:p.Phe5Cys
XM_017014811.1:c.-193T>G (NANS) XP_016870300.1:n.-193T>G
XM_017015352.2:c.*29-4765A>C (TRIM14) XP_016870841.1:n.*29-4765A>C
XM_024447574.1:c.14T>G (NANS) XP_024303342.1:p.Phe5Cys
NM_018946.4:c.362T>G (NANS) MANE Select NP_061819.2:p.Phe121Cys