Canonical Allele Identifier: CA2690915257

Linked Data

dbSNP Id: rs2117940046
gnomAD v4: 9-98076765-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076765C>A , CM000671.2:g.98076765C>A GRCh38
NC_000009.11:g.100839047C>A , CM000671.1:g.100839047C>A GRCh37
NC_000009.10:g.99878868C>A NCBI36
NG_052789.1:g.25089C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.349-153C>A (NANS) MANE Select ENSP00000210444.5:n.349-153C>A
ENST00000210444.5:c.349-153C>A (NANS) ENSP00000210444.5:n.349-153C>A
ENST00000375098.7:c.*29-7078G>T (TRIM14) ENSP00000364239.3:n.*29-7078G>T
ENST00000461452.1:n.2123C>A (NANS)
ENST00000495319.1:n.553-153C>A (NANS)
NM_018946.3:c.349-153C>A (NANS) NP_061819.2:n.349-153C>A
XM_011518787.1:c.1-153C>A (NANS) XP_011517089.1:n.1-153C>A
XM_011518787.2:c.1-153C>A (NANS) XP_011517089.1:n.1-153C>A
XM_017014811.1:c.-206-153C>A (NANS) XP_016870300.1:n.-206-153C>A
XM_017015352.2:c.*29-4599G>T (TRIM14) XP_016870841.1:n.*29-4599G>T
XM_024447574.1:c.-153C>A (NANS) XP_024303342.1:n.-153C>A
NM_018946.4:c.349-153C>A (NANS) MANE Select NP_061819.2:n.349-153C>A