Canonical Allele Identifier: CA2690915330

Linked Data

gnomAD v4: 9-98076865-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076865C>A , CM000671.2:g.98076865C>A GRCh38
NC_000009.11:g.100839147C>A , CM000671.1:g.100839147C>A GRCh37
NC_000009.10:g.99878968C>A NCBI36
NG_052789.1:g.25189C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000210444.6:c.349-53C>A (NANS) MANE Select ENSP00000210444.5:n.349-53C>A
ENST00000210444.5:c.349-53C>A (NANS) ENSP00000210444.5:n.349-53C>A
ENST00000375098.7:c.*29-7178G>T (TRIM14) ENSP00000364239.3:n.*29-7178G>T
ENST00000415280.1:c.-259C>A (NANS) ENSP00000404107.1:n.-259C>A
ENST00000461452.1:n.2223C>A (NANS)
ENST00000495319.1:n.553-53C>A (NANS)
NM_018946.3:c.349-53C>A (NANS) NP_061819.2:n.349-53C>A
XM_011518787.1:c.1-53C>A (NANS) XP_011517089.1:n.1-53C>A
XM_011518787.2:c.1-53C>A (NANS) XP_011517089.1:n.1-53C>A
XM_017014811.1:c.-206-53C>A (NANS) XP_016870300.1:n.-206-53C>A
XM_017015352.2:c.*29-4699G>T (TRIM14) XP_016870841.1:n.*29-4699G>T
XM_024447574.1:c.-53C>A (NANS) XP_024303342.1:n.-53C>A
NM_018946.4:c.349-53C>A (NANS) MANE Select NP_061819.2:n.349-53C>A