Canonical Allele Identifier: CA5537541

Gene: NODAL

Linked Data

• dbSNP Id: rs750811947
• ExAC: 10:72195206 T / C
• gnomAD v4: 10-70435450-T-C
• MyVariant Identifiers: chr10:g.72195206T>C (hg19) ; chr10:g.70435450T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70435450T>C , CM000672.2:g.70435450T>C	GRCh38
NC_000010.10:g.72195206T>C , CM000672.1:g.72195206T>C	GRCh37
NC_000010.9:g.71865212T>C	NCBI36
NG_012448.1:g.11260A>G
NG_012448.2:g.17499A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000287139.8:c.727A>G MANE Select	ENSP00000287139.3:p.Arg243Gly
ENST00000287139.7:c.727A>G	ENSP00000287139.3:p.Arg243Gly
ENST00000414871.1:c.562A>G	ENSP00000394468.1:p.Arg188Gly
NM_018055.4:c.727A>G	NP_060525.3:p.Arg243Gly
NM_001329906.1:c.328A>G	NP_001316835.1:p.Arg110Gly
XM_024448028.1:c.328A>G	XP_024303796.1:p.Arg110Gly
NM_018055.5:c.727A>G MANE Select	NP_060525.3:p.Arg243Gly
NM_001329906.2:c.328A>G	NP_001316835.1:p.Arg110Gly