Canonical Allele Identifier: CA466419752

Linked Data

MyVariant Identifiers: chr9:g.100839241C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076959C>T , CM000671.2:g.98076959C>T GRCh38
NC_000009.11:g.100839241C>T , CM000671.1:g.100839241C>T GRCh37
NC_000009.10:g.99879062C>T NCBI36
NG_052789.1:g.25283C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.390C>T (NANS) MANE Select ENSP00000210444.5:p.Phe130=
ENST00000210444.5:c.390C>T (NANS) ENSP00000210444.5:p.Phe130=
ENST00000375098.7:c.*29-7272G>A (TRIM14) ENSP00000364239.3:n.*29-7272G>A
ENST00000415280.1:c.-165C>T (NANS) ENSP00000404107.1:n.-165C>T
ENST00000461452.1:n.2317C>T (NANS)
ENST00000495319.1:n.594C>T (NANS)
NM_018946.3:c.390C>T (NANS) NP_061819.2:p.Phe130=
XM_011518787.1:c.42C>T (NANS) XP_011517089.1:p.Phe14=
XM_011518788.1:c.14C>T (NANS) XP_011517090.1:p.Ser5Leu
XM_011518787.2:c.42C>T (NANS) XP_011517089.1:p.Phe14=
XM_011518788.2:c.14C>T (NANS) XP_011517090.1:p.Ser5Leu
XM_017014811.1:c.-165C>T (NANS) XP_016870300.1:n.-165C>T
XM_017015352.2:c.*29-4793G>A (TRIM14) XP_016870841.1:n.*29-4793G>A
XM_024447574.1:c.42C>T (NANS) XP_024303342.1:p.Phe14=
NM_018946.4:c.390C>T (NANS) MANE Select NP_061819.2:p.Phe130=