Canonical Allele Identifier: CA5537666
Gene: NODAL HGNC NCBI

Linked Data

dbSNP Id: rs552601743
ExAC: 10:72201343 C / T
gnomAD v2: 10-72201343-C-T
gnomAD v3: 10-70441587-C-T
gnomAD v4: 10-70441587-C-T
MyVariant Identifiers: chr10:g.72201343C>T (hg19) chr10:g.70441587C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70441587C>T , CM000672.2:g.70441587C>T GRCh38
NC_000010.10:g.72201343C>T , CM000672.1:g.72201343C>T GRCh37
NC_000010.9:g.71871349C>T NCBI36
NG_012448.1:g.5123G>A
NG_012448.2:g.11362G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000287139.8:c.81G>A MANE Select ENSP00000287139.3:p.Ala27=
ENST00000287139.7:c.81G>A ENSP00000287139.3:p.Ala27=
ENST00000414871.1:c.29-5604G>A ENSP00000394468.1:n.29-5604G>A
NM_018055.4:c.81G>A NP_060525.3:p.Ala27=
NM_001329906.1:c.-206-5604G>A NP_001316835.1:n.-206-5604G>A
XM_024448028.1:c.-207+444G>A XP_024303796.1:n.-207+444G>A
NM_018055.5:c.81G>A MANE Select NP_060525.3:p.Ala27=
NM_001329906.2:c.-206-5604G>A NP_001316835.1:n.-206-5604G>A
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