Canonical Allele Identifier: CA196767596

Linked Data

dbSNP Id: rs779206025
gnomAD v3: 9-98077163-G-C
gnomAD v4: 9-98077163-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98077163G>C , CM000671.2:g.98077163G>C GRCh38
NC_000009.11:g.100839445G>C , CM000671.1:g.100839445G>C GRCh37
NC_000009.10:g.99879266G>C NCBI36
NG_052789.1:g.25487G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.448+146G>C (NANS) MANE Select ENSP00000210444.5:n.448+146G>C
ENST00000210444.5:c.448+146G>C (NANS) ENSP00000210444.5:n.448+146G>C
ENST00000375098.7:c.*29-7476C>G (TRIM14) ENSP00000364239.3:n.*29-7476C>G
ENST00000415280.1:c.-107+146G>C (NANS) ENSP00000404107.1:n.-107+146G>C
ENST00000461452.1:n.2375+146G>C (NANS)
ENST00000495319.1:n.652+146G>C (NANS)
NM_018946.3:c.448+146G>C (NANS) NP_061819.2:n.448+146G>C
XM_011518787.1:c.100+146G>C (NANS) XP_011517089.1:n.100+146G>C
XM_011518788.1:c.71+147G>C (NANS) XP_011517090.1:n.71+147G>C
XM_011518787.2:c.100+146G>C (NANS) XP_011517089.1:n.100+146G>C
XM_011518788.2:c.71+147G>C (NANS) XP_011517090.1:n.71+147G>C
XM_017014811.1:c.-107+146G>C (NANS) XP_016870300.1:n.-107+146G>C
XM_017015352.2:c.*29-4997C>G (TRIM14) XP_016870841.1:n.*29-4997C>G
XM_024447574.1:c.100+146G>C (NANS) XP_024303342.1:n.100+146G>C
NM_018946.4:c.448+146G>C (NANS) MANE Select NP_061819.2:n.448+146G>C