Canonical Allele Identifier: CA589339404

Linked Data

dbSNP Id: rs1426985824
gnomAD v4: 9-98076873-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076873T>G , CM000671.2:g.98076873T>G GRCh38
NC_000009.11:g.100839155T>G , CM000671.1:g.100839155T>G GRCh37
NC_000009.10:g.99878976T>G NCBI36
NG_052789.1:g.25197T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000210444.6:c.349-45T>G (NANS) MANE Select ENSP00000210444.5:n.349-45T>G
ENST00000210444.5:c.349-45T>G (NANS) ENSP00000210444.5:n.349-45T>G
ENST00000375098.7:c.*29-7186A>C (TRIM14) ENSP00000364239.3:n.*29-7186A>C
ENST00000415280.1:c.-251T>G (NANS) ENSP00000404107.1:n.-251T>G
ENST00000461452.1:n.2231T>G (NANS)
ENST00000495319.1:n.553-45T>G (NANS)
NM_018946.3:c.349-45T>G (NANS) NP_061819.2:n.349-45T>G
XM_011518787.1:c.1-45T>G (NANS) XP_011517089.1:n.1-45T>G
XM_011518787.2:c.1-45T>G (NANS) XP_011517089.1:n.1-45T>G
XM_017014811.1:c.-206-45T>G (NANS) XP_016870300.1:n.-206-45T>G
XM_017015352.2:c.*29-4707A>C (TRIM14) XP_016870841.1:n.*29-4707A>C
XM_024447574.1:c.-45T>G (NANS) XP_024303342.1:n.-45T>G
NM_018946.4:c.349-45T>G (NANS) MANE Select NP_061819.2:n.349-45T>G