Canonical Allele Identifier: CA196767494

Linked Data

dbSNP Id: rs1009164574
gnomAD v3: 9-98076794-T-C
gnomAD v4: 9-98076794-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.98076794T>C , CM000671.2:g.98076794T>C GRCh38
NC_000009.11:g.100839076T>C , CM000671.1:g.100839076T>C GRCh37
NC_000009.10:g.99878897T>C NCBI36
NG_052789.1:g.25118T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000210444.6:c.349-124T>C (NANS) MANE Select ENSP00000210444.5:n.349-124T>C
ENST00000210444.5:c.349-124T>C (NANS) ENSP00000210444.5:n.349-124T>C
ENST00000375098.7:c.*29-7107A>G (TRIM14) ENSP00000364239.3:n.*29-7107A>G
ENST00000461452.1:n.2152T>C (NANS)
ENST00000495319.1:n.553-124T>C (NANS)
NM_018946.3:c.349-124T>C (NANS) NP_061819.2:n.349-124T>C
XM_011518787.1:c.1-124T>C (NANS) XP_011517089.1:n.1-124T>C
XM_011518787.2:c.1-124T>C (NANS) XP_011517089.1:n.1-124T>C
XM_017014811.1:c.-206-124T>C (NANS) XP_016870300.1:n.-206-124T>C
XM_017015352.2:c.*29-4628A>G (TRIM14) XP_016870841.1:n.*29-4628A>G
XM_024447574.1:c.-124T>C (NANS) XP_024303342.1:n.-124T>C
NM_018946.4:c.349-124T>C (NANS) MANE Select NP_061819.2:n.349-124T>C