Canonical Allele Identifier: CA374197614

Linked Data

gnomAD v4: 9-98076967-G-A

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000210444.6:c.398G>A (NANS) MANE Select ENSP00000210444.5:p.Gly133Glu
ENST00000210444.5:c.398G>A (NANS) ENSP00000210444.5:p.Gly133Glu
ENST00000375098.7:c.*29-7280C>T (TRIM14) ENSP00000364239.3:n.*29-7280C>T
ENST00000415280.1:c.-157G>A (NANS) ENSP00000404107.1:n.-157G>A
ENST00000461452.1:n.2325G>A (NANS)
ENST00000495319.1:n.602G>A (NANS)
NM_018946.3:c.398G>A (NANS) NP_061819.2:p.Gly133Glu
XM_011518787.1:c.50G>A (NANS) XP_011517089.1:p.Gly17Glu
XM_011518788.1:c.22G>A (NANS) XP_011517090.1:p.Asp8Asn
XM_011518787.2:c.50G>A (NANS) XP_011517089.1:p.Gly17Glu
XM_011518788.2:c.22G>A (NANS) XP_011517090.1:p.Asp8Asn
XM_017014811.1:c.-157G>A (NANS) XP_016870300.1:n.-157G>A
XM_017015352.2:c.*29-4801C>T (TRIM14) XP_016870841.1:n.*29-4801C>T
XM_024447574.1:c.50G>A (NANS) XP_024303342.1:p.Gly17Glu
NM_018946.4:c.398G>A (NANS) MANE Select NP_061819.2:p.Gly133Glu