Canonical Allele Identifier: CA1127179453

Linked Data

dbSNP Id: rs1829614635
gnomAD v3: 9-98076866-A-G
gnomAD v4: 9-98076866-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076866A>G , CM000671.2:g.98076866A>G GRCh38
NC_000009.11:g.100839148A>G , CM000671.1:g.100839148A>G GRCh37
NC_000009.10:g.99878969A>G NCBI36
NG_052789.1:g.25190A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000210444.6:c.349-52A>G (NANS) MANE Select ENSP00000210444.5:n.349-52A>G
ENST00000210444.5:c.349-52A>G (NANS) ENSP00000210444.5:n.349-52A>G
ENST00000375098.7:c.*29-7179T>C (TRIM14) ENSP00000364239.3:n.*29-7179T>C
ENST00000415280.1:c.-258A>G (NANS) ENSP00000404107.1:n.-258A>G
ENST00000461452.1:n.2224A>G (NANS)
ENST00000495319.1:n.553-52A>G (NANS)
NM_018946.3:c.349-52A>G (NANS) NP_061819.2:n.349-52A>G
XM_011518787.1:c.1-52A>G (NANS) XP_011517089.1:n.1-52A>G
XM_011518787.2:c.1-52A>G (NANS) XP_011517089.1:n.1-52A>G
XM_017014811.1:c.-206-52A>G (NANS) XP_016870300.1:n.-206-52A>G
XM_017015352.2:c.*29-4700T>C (TRIM14) XP_016870841.1:n.*29-4700T>C
XM_024447574.1:c.-52A>G (NANS) XP_024303342.1:n.-52A>G
NM_018946.4:c.349-52A>G (NANS) MANE Select NP_061819.2:n.349-52A>G