Canonical Allele Identifier: CA374197535

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076957T>C , CM000671.2:g.98076957T>C GRCh38
NC_000009.11:g.100839239T>C , CM000671.1:g.100839239T>C GRCh37
NC_000009.10:g.99879060T>C NCBI36
NG_052789.1:g.25281T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.388T>C (NANS) MANE Select ENSP00000210444.5:p.Phe130Leu
ENST00000210444.5:c.388T>C (NANS) ENSP00000210444.5:p.Phe130Leu
ENST00000375098.7:c.*29-7270A>G (TRIM14) ENSP00000364239.3:n.*29-7270A>G
ENST00000415280.1:c.-167T>C (NANS) ENSP00000404107.1:n.-167T>C
ENST00000461452.1:n.2315T>C (NANS)
ENST00000495319.1:n.592T>C (NANS)
NM_018946.3:c.388T>C (NANS) NP_061819.2:p.Phe130Leu
XM_011518787.1:c.40T>C (NANS) XP_011517089.1:p.Phe14Leu
XM_011518788.1:c.12T>C (NANS) XP_011517090.1:p.Phe4=
XM_011518787.2:c.40T>C (NANS) XP_011517089.1:p.Phe14Leu
XM_011518788.2:c.12T>C (NANS) XP_011517090.1:p.Phe4=
XM_017014811.1:c.-167T>C (NANS) XP_016870300.1:n.-167T>C
XM_017015352.2:c.*29-4791A>G (TRIM14) XP_016870841.1:n.*29-4791A>G
XM_024447574.1:c.40T>C (NANS) XP_024303342.1:p.Phe14Leu
NM_018946.4:c.388T>C (NANS) MANE Select NP_061819.2:p.Phe130Leu