Canonical Allele Identifier: CA5537664
Gene: NODAL HGNC NCBI

Linked Data

dbSNP Id: rs768615876
ExAC: 10:72201329 C / A
gnomAD v2: 10-72201329-C-A
gnomAD v3: 10-70441573-C-A
gnomAD v4: 10-70441573-C-A
MyVariant Identifiers: chr10:g.72201329C>A (hg19) chr10:g.70441573C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70441573C>A , CM000672.2:g.70441573C>A GRCh38
NC_000010.10:g.72201329C>A , CM000672.1:g.72201329C>A GRCh37
NC_000010.9:g.71871335C>A NCBI36
NG_012448.1:g.5137G>T
NG_012448.2:g.11376G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287139.8:c.95G>T MANE Select ENSP00000287139.3:p.Arg32Leu
ENST00000287139.7:c.95G>T ENSP00000287139.3:p.Arg32Leu
ENST00000414871.1:c.29-5590G>T ENSP00000394468.1:n.29-5590G>T
NM_018055.4:c.95G>T NP_060525.3:p.Arg32Leu
NM_001329906.1:c.-206-5590G>T NP_001316835.1:n.-206-5590G>T
XM_024448028.1:c.-207+458G>T XP_024303796.1:n.-207+458G>T
NM_018055.5:c.95G>T MANE Select NP_060525.3:p.Arg32Leu
NM_001329906.2:c.-206-5590G>T NP_001316835.1:n.-206-5590G>T
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