Canonical Allele Identifier: CA2690915344

Linked Data

gnomAD v4: 9-98076889-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076889A>G , CM000671.2:g.98076889A>G GRCh38
NC_000009.11:g.100839171A>G , CM000671.1:g.100839171A>G GRCh37
NC_000009.10:g.99878992A>G NCBI36
NG_052789.1:g.25213A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000210444.6:c.349-29A>G (NANS) MANE Select ENSP00000210444.5:n.349-29A>G
ENST00000210444.5:c.349-29A>G (NANS) ENSP00000210444.5:n.349-29A>G
ENST00000375098.7:c.*29-7202T>C (TRIM14) ENSP00000364239.3:n.*29-7202T>C
ENST00000415280.1:c.-235A>G (NANS) ENSP00000404107.1:n.-235A>G
ENST00000461452.1:n.2247A>G (NANS)
ENST00000495319.1:n.553-29A>G (NANS)
NM_018946.3:c.349-29A>G (NANS) NP_061819.2:n.349-29A>G
XM_011518787.1:c.1-29A>G (NANS) XP_011517089.1:n.1-29A>G
XM_011518787.2:c.1-29A>G (NANS) XP_011517089.1:n.1-29A>G
XM_017014811.1:c.-206-29A>G (NANS) XP_016870300.1:n.-206-29A>G
XM_017015352.2:c.*29-4723T>C (TRIM14) XP_016870841.1:n.*29-4723T>C
XM_024447574.1:c.-29A>G (NANS) XP_024303342.1:n.-29A>G
NM_018946.4:c.349-29A>G (NANS) MANE Select NP_061819.2:n.349-29A>G