Canonical Allele Identifier: CA149000
Gene: NODAL HGNC NCBI

Linked Data

ClinVar Variation Id: 95882
dbSNP Id: rs1904589

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70435683T>C , CM000672.2:g.70435683T>C GRCh38
NC_000010.10:g.72195439T>C , CM000672.1:g.72195439T>C GRCh37
NC_000010.9:g.71865445T>C NCBI36
NG_012448.1:g.11027A>G
NG_012448.2:g.17266A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000287139.8:c.494A>G MANE Select ENSP00000287139.3:p.His165Arg
ENST00000287139.7:c.494A>G ENSP00000287139.3:p.His165Arg
ENST00000414871.1:c.329A>G ENSP00000394468.1:p.His110Arg
NM_018055.4:c.494A>G NP_060525.3:p.His165Arg
NM_001329906.1:c.95A>G NP_001316835.1:p.His32Arg
XM_024448028.1:c.95A>G XP_024303796.1:p.His32Arg
NM_018055.5:c.494A>G MANE Select NP_060525.3:p.His165Arg
NM_001329906.2:c.95A>G NP_001316835.1:p.His32Arg