Canonical Allele Identifier: CA10635598
Gene: NODAL HGNC NCBI

Linked Data

ClinVar Variation Id: 300312
ClinVar RCV Id: RCV001788192
dbSNP Id: rs146471900
gnomAD v3: 10-70441543-G-A
gnomAD v4: 10-70441543-G-A
MyVariant Identifiers: chr10:g.72201299G>A (hg19) chr10:g.70441543G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70441543G>A , CM000672.2:g.70441543G>A GRCh38
NC_000010.10:g.72201299G>A , CM000672.1:g.72201299G>A GRCh37
NC_000010.9:g.71871305G>A NCBI36
NG_012448.1:g.5167C>T
NG_012448.2:g.11406C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000287139.8:c.125C>T MANE Select ENSP00000287139.3:p.Ala42Val
ENST00000287139.7:c.125C>T ENSP00000287139.3:p.Ala42Val
ENST00000414871.1:c.29-5560C>T ENSP00000394468.1:n.29-5560C>T
NM_018055.4:c.125C>T NP_060525.3:p.Ala42Val
NM_001329906.1:c.-206-5560C>T NP_001316835.1:n.-206-5560C>T
XM_024448028.1:c.-207+488C>T XP_024303796.1:n.-207+488C>T
NM_018055.5:c.125C>T MANE Select NP_060525.3:p.Ala42Val
NM_001329906.2:c.-206-5560C>T NP_001316835.1:n.-206-5560C>T
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