Canonical Allele Identifier: CA2579396629

Linked Data

gnomAD v4: 9-98076870-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076870G>C , CM000671.2:g.98076870G>C GRCh38
NC_000009.11:g.100839152G>C , CM000671.1:g.100839152G>C GRCh37
NC_000009.10:g.99878973G>C NCBI36
NG_052789.1:g.25194G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000210444.6:c.349-48G>C (NANS) MANE Select ENSP00000210444.5:n.349-48G>C
ENST00000210444.5:c.349-48G>C (NANS) ENSP00000210444.5:n.349-48G>C
ENST00000375098.7:c.*29-7183C>G (TRIM14) ENSP00000364239.3:n.*29-7183C>G
ENST00000415280.1:c.-254G>C (NANS) ENSP00000404107.1:n.-254G>C
ENST00000461452.1:n.2228G>C (NANS)
ENST00000495319.1:n.553-48G>C (NANS)
NM_018946.3:c.349-48G>C (NANS) NP_061819.2:n.349-48G>C
XM_011518787.1:c.1-48G>C (NANS) XP_011517089.1:n.1-48G>C
XM_011518787.2:c.1-48G>C (NANS) XP_011517089.1:n.1-48G>C
XM_017014811.1:c.-206-48G>C (NANS) XP_016870300.1:n.-206-48G>C
XM_017015352.2:c.*29-4704C>G (TRIM14) XP_016870841.1:n.*29-4704C>G
XM_024447574.1:c.-48G>C (NANS) XP_024303342.1:n.-48G>C
NM_018946.4:c.349-48G>C (NANS) MANE Select NP_061819.2:n.349-48G>C