Canonical Allele Identifier: CA5537540

Gene: NODAL

Linked Data

• dbSNP Id: rs765752596
• ExAC: 10:72195202 C / G
• gnomAD v2: 10-72195202-C-G
• gnomAD v3: 10-70435446-C-G
• gnomAD v4: 10-70435446-C-G
• MyVariant Identifiers: chr10:g.72195202C>G (hg19) ; chr10:g.70435446C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70435446C>G , CM000672.2:g.70435446C>G	GRCh38
NC_000010.10:g.72195202C>G , CM000672.1:g.72195202C>G	GRCh37
NC_000010.9:g.71865208C>G	NCBI36
NG_012448.1:g.11264G>C
NG_012448.2:g.17503G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000287139.8:c.731G>C MANE Select	ENSP00000287139.3:p.Ser244Thr
ENST00000287139.7:c.731G>C	ENSP00000287139.3:p.Ser244Thr
ENST00000414871.1:c.566G>C	ENSP00000394468.1:p.Ser189Thr
NM_018055.4:c.731G>C	NP_060525.3:p.Ser244Thr
NM_001329906.1:c.332G>C	NP_001316835.1:p.Ser111Thr
XM_024448028.1:c.332G>C	XP_024303796.1:p.Ser111Thr
NM_018055.5:c.731G>C MANE Select	NP_060525.3:p.Ser244Thr
NM_001329906.2:c.332G>C	NP_001316835.1:p.Ser111Thr