Canonical Allele Identifier: CA589339412

Linked Data

dbSNP Id: rs1169304906
gnomAD v3: 9-98076891-A-G
gnomAD v4: 9-98076891-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076891A>G , CM000671.2:g.98076891A>G GRCh38
NC_000009.11:g.100839173A>G , CM000671.1:g.100839173A>G GRCh37
NC_000009.10:g.99878994A>G NCBI36
NG_052789.1:g.25215A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.349-27A>G (NANS) MANE Select ENSP00000210444.5:n.349-27A>G
ENST00000210444.5:c.349-27A>G (NANS) ENSP00000210444.5:n.349-27A>G
ENST00000375098.7:c.*29-7204T>C (TRIM14) ENSP00000364239.3:n.*29-7204T>C
ENST00000415280.1:c.-233A>G (NANS) ENSP00000404107.1:n.-233A>G
ENST00000461452.1:n.2249A>G (NANS)
ENST00000495319.1:n.553-27A>G (NANS)
NM_018946.3:c.349-27A>G (NANS) NP_061819.2:n.349-27A>G
XM_011518787.1:c.1-27A>G (NANS) XP_011517089.1:n.1-27A>G
XM_011518787.2:c.1-27A>G (NANS) XP_011517089.1:n.1-27A>G
XM_017014811.1:c.-206-27A>G (NANS) XP_016870300.1:n.-206-27A>G
XM_017015352.2:c.*29-4725T>C (TRIM14) XP_016870841.1:n.*29-4725T>C
XM_024447574.1:c.-27A>G (NANS) XP_024303342.1:n.-27A>G
NM_018946.4:c.349-27A>G (NANS) MANE Select NP_061819.2:n.349-27A>G