Canonical Allele Identifier: CA1127179541

Linked Data

dbSNP Id: rs1829628597
gnomAD v3: 9-98077125-C-G
gnomAD v4: 9-98077125-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077125C>G , CM000671.2:g.98077125C>G GRCh38
NC_000009.11:g.100839407C>G , CM000671.1:g.100839407C>G GRCh37
NC_000009.10:g.99879228C>G NCBI36
NG_052789.1:g.25449C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.448+108C>G (NANS) MANE Select ENSP00000210444.5:n.448+108C>G
ENST00000210444.5:c.448+108C>G (NANS) ENSP00000210444.5:n.448+108C>G
ENST00000375098.7:c.*29-7438G>C (TRIM14) ENSP00000364239.3:n.*29-7438G>C
ENST00000415280.1:c.-107+108C>G (NANS) ENSP00000404107.1:n.-107+108C>G
ENST00000461452.1:n.2375+108C>G (NANS)
ENST00000495319.1:n.652+108C>G (NANS)
NM_018946.3:c.448+108C>G (NANS) NP_061819.2:n.448+108C>G
XM_011518787.1:c.100+108C>G (NANS) XP_011517089.1:n.100+108C>G
XM_011518788.1:c.71+109C>G (NANS) XP_011517090.1:n.71+109C>G
XM_011518787.2:c.100+108C>G (NANS) XP_011517089.1:n.100+108C>G
XM_011518788.2:c.71+109C>G (NANS) XP_011517090.1:n.71+109C>G
XM_017014811.1:c.-107+108C>G (NANS) XP_016870300.1:n.-107+108C>G
XM_017015352.2:c.*29-4959G>C (TRIM14) XP_016870841.1:n.*29-4959G>C
XM_024447574.1:c.100+108C>G (NANS) XP_024303342.1:n.100+108C>G
NM_018946.4:c.448+108C>G (NANS) MANE Select NP_061819.2:n.448+108C>G