Canonical Allele Identifier: CA589339400

Linked Data

dbSNP Id: rs1490083972
gnomAD v4: 9-98076868-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076868C>T , CM000671.2:g.98076868C>T GRCh38
NC_000009.11:g.100839150C>T , CM000671.1:g.100839150C>T GRCh37
NC_000009.10:g.99878971C>T NCBI36
NG_052789.1:g.25192C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000210444.6:c.349-50C>T (NANS) MANE Select ENSP00000210444.5:n.349-50C>T
ENST00000210444.5:c.349-50C>T (NANS) ENSP00000210444.5:n.349-50C>T
ENST00000375098.7:c.*29-7181G>A (TRIM14) ENSP00000364239.3:n.*29-7181G>A
ENST00000415280.1:c.-256C>T (NANS) ENSP00000404107.1:n.-256C>T
ENST00000461452.1:n.2226C>T (NANS)
ENST00000495319.1:n.553-50C>T (NANS)
NM_018946.3:c.349-50C>T (NANS) NP_061819.2:n.349-50C>T
XM_011518787.1:c.1-50C>T (NANS) XP_011517089.1:n.1-50C>T
XM_011518787.2:c.1-50C>T (NANS) XP_011517089.1:n.1-50C>T
XM_017014811.1:c.-206-50C>T (NANS) XP_016870300.1:n.-206-50C>T
XM_017015352.2:c.*29-4702G>A (TRIM14) XP_016870841.1:n.*29-4702G>A
XM_024447574.1:c.-50C>T (NANS) XP_024303342.1:n.-50C>T
NM_018946.4:c.349-50C>T (NANS) MANE Select NP_061819.2:n.349-50C>T