Canonical Allele Identifier: CA5537515
Gene: NODAL HGNC NCBI

Linked Data

ClinVar Variation Id: 2058579
ClinVar RCV Id: RCV002928588
dbSNP Id: rs375311498
ExAC: 10:72195023 C / G
gnomAD v2: 10-72195023-C-G
gnomAD v3: 10-70435267-C-G
gnomAD v4: 10-70435267-C-G
MyVariant Identifiers: chr10:g.72195023C>G (hg19) chr10:g.70435267C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70435267C>G , CM000672.2:g.70435267C>G GRCh38
NC_000010.10:g.72195023C>G , CM000672.1:g.72195023C>G GRCh37
NC_000010.9:g.71865029C>G NCBI36
NG_012448.1:g.11443G>C
NG_012448.2:g.17682G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000287139.8:c.891+19G>C MANE Select ENSP00000287139.3:n.891+19G>C
ENST00000287139.7:c.891+19G>C ENSP00000287139.3:n.891+19G>C
ENST00000414871.1:c.726+19G>C ENSP00000394468.1:n.726+19G>C
NM_018055.4:c.891+19G>C NP_060525.3:n.891+19G>C
NM_001329906.1:c.492+19G>C NP_001316835.1:n.492+19G>C
XM_024448028.1:c.492+19G>C XP_024303796.1:n.492+19G>C
NM_018055.5:c.891+19G>C MANE Select NP_060525.3:n.891+19G>C
NM_001329906.2:c.492+19G>C NP_001316835.1:n.492+19G>C
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