Canonical Allele Identifier: CA281595
Gene: NODAL HGNC NCBI

Linked Data

ClinVar Variation Id: 8269
ClinVar RCV Id: RCV001558244 RCV001824117 RCV003398472
dbSNP Id: rs121909283
ExAC: 10:72195155 C / T
gnomAD v2: 10-72195155-C-T
gnomAD v3: 10-70435399-C-T
gnomAD v4: 10-70435399-C-T
MyVariant Identifiers: chr10:g.72195155C>T (hg19) chr10:g.70435399C>T (hg38)
PubMed: PMID:8429908 PMID:8610013 PMID:9354794 PMID:11709181 PMID:16721152 PMID:19064609 PMID:19553149 PMID:19933292 PMID:22352765 PMID:25298693
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70435399C>T , CM000672.2:g.70435399C>T GRCh38
NC_000010.10:g.72195155C>T , CM000672.1:g.72195155C>T GRCh37
NC_000010.9:g.71865161C>T NCBI36
NG_012448.1:g.11311G>A
NG_012448.2:g.17550G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000287139.8:c.778G>A MANE Select ENSP00000287139.3:p.Gly260Arg
ENST00000287139.7:c.778G>A ENSP00000287139.3:p.Gly260Arg
ENST00000414871.1:c.613G>A ENSP00000394468.1:p.Gly205Arg
NM_018055.4:c.778G>A NP_060525.3:p.Gly260Arg
NM_001329906.1:c.379G>A NP_001316835.1:p.Gly127Arg
XM_024448028.1:c.379G>A XP_024303796.1:p.Gly127Arg
NM_018055.5:c.778G>A MANE Select NP_060525.3:p.Gly260Arg
NM_001329906.2:c.379G>A NP_001316835.1:p.Gly127Arg
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