Canonical Allele Identifier: CA374197615

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076967G>C , CM000671.2:g.98076967G>C GRCh38
NC_000009.11:g.100839249G>C , CM000671.1:g.100839249G>C GRCh37
NC_000009.10:g.99879070G>C NCBI36
NG_052789.1:g.25291G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.398G>C (NANS) MANE Select ENSP00000210444.5:p.Gly133Ala
ENST00000210444.5:c.398G>C (NANS) ENSP00000210444.5:p.Gly133Ala
ENST00000375098.7:c.*29-7280C>G (TRIM14) ENSP00000364239.3:n.*29-7280C>G
ENST00000415280.1:c.-157G>C (NANS) ENSP00000404107.1:n.-157G>C
ENST00000461452.1:n.2325G>C (NANS)
ENST00000495319.1:n.602G>C (NANS)
NM_018946.3:c.398G>C (NANS) NP_061819.2:p.Gly133Ala
XM_011518787.1:c.50G>C (NANS) XP_011517089.1:p.Gly17Ala
XM_011518788.1:c.22G>C (NANS) XP_011517090.1:p.Asp8His
XM_011518787.2:c.50G>C (NANS) XP_011517089.1:p.Gly17Ala
XM_011518788.2:c.22G>C (NANS) XP_011517090.1:p.Asp8His
XM_017014811.1:c.-157G>C (NANS) XP_016870300.1:n.-157G>C
XM_017015352.2:c.*29-4801C>G (TRIM14) XP_016870841.1:n.*29-4801C>G
XM_024447574.1:c.50G>C (NANS) XP_024303342.1:p.Gly17Ala
NM_018946.4:c.398G>C (NANS) MANE Select NP_061819.2:p.Gly133Ala