Canonical Allele Identifier: CA374197435

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076941A>C , CM000671.2:g.98076941A>C GRCh38
NC_000009.11:g.100839223A>C , CM000671.1:g.100839223A>C GRCh37
NC_000009.10:g.99879044A>C NCBI36
NG_052789.1:g.25265A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.372A>C (NANS) MANE Select ENSP00000210444.5:p.Glu124Asp
ENST00000210444.5:c.372A>C (NANS) ENSP00000210444.5:p.Glu124Asp
ENST00000375098.7:c.*29-7254T>G (TRIM14) ENSP00000364239.3:n.*29-7254T>G
ENST00000415280.1:c.-183A>C (NANS) ENSP00000404107.1:n.-183A>C
ENST00000461452.1:n.2299A>C (NANS)
ENST00000495319.1:n.576A>C (NANS)
NM_018946.3:c.372A>C (NANS) NP_061819.2:p.Glu124Asp
XM_011518787.1:c.24A>C (NANS) XP_011517089.1:p.Glu8Asp
XM_011518788.1:c.-5A>C (NANS) XP_011517090.1:n.-5A>C
XM_011518787.2:c.24A>C (NANS) XP_011517089.1:p.Glu8Asp
XM_011518788.2:c.-5A>C (NANS) XP_011517090.1:n.-5A>C
XM_017014811.1:c.-183A>C (NANS) XP_016870300.1:n.-183A>C
XM_017015352.2:c.*29-4775T>G (TRIM14) XP_016870841.1:n.*29-4775T>G
XM_024447574.1:c.24A>C (NANS) XP_024303342.1:p.Glu8Asp
NM_018946.4:c.372A>C (NANS) MANE Select NP_061819.2:p.Glu124Asp