Canonical Allele Identifier: CA5537587
Gene: NODAL HGNC NCBI

Linked Data

ClinVar Variation Id: 260990
ClinVar RCV Id: RCV000242087 RCV000867373
dbSNP Id: rs145468639
ExAC: 10:72195402 A / G
gnomAD v2: 10-72195402-A-G
gnomAD v3: 10-70435646-A-G
gnomAD v4: 10-70435646-A-G
MyVariant Identifiers: chr10:g.72195402A>G (hg19) chr10:g.70435646A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.70435646A>G , CM000672.2:g.70435646A>G GRCh38
NC_000010.10:g.72195402A>G , CM000672.1:g.72195402A>G GRCh37
NC_000010.9:g.71865408A>G NCBI36
NG_012448.1:g.11064T>C
NG_012448.2:g.17303T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000287139.8:c.531T>C MANE Select ENSP00000287139.3:p.Ala177=
ENST00000287139.7:c.531T>C ENSP00000287139.3:p.Ala177=
ENST00000414871.1:c.366T>C ENSP00000394468.1:p.Ala122=
NM_018055.4:c.531T>C NP_060525.3:p.Ala177=
NM_001329906.1:c.132T>C NP_001316835.1:p.Ala44=
XM_024448028.1:c.132T>C XP_024303796.1:p.Ala44=
NM_018055.5:c.531T>C MANE Select NP_060525.3:p.Ala177=
NM_001329906.2:c.132T>C NP_001316835.1:p.Ala44=
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