Canonical Allele Identifier: CA470038882

Gene: NODAL

Linked Data

• dbSNP Id: rs369058589
• gnomAD v4: 10-70441617-G-A
• MyVariant Identifiers: chr10:g.72201373G>A (hg19) ; chr10:g.70441617G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70441617G>A , CM000672.2:g.70441617G>A	GRCh38
NC_000010.10:g.72201373G>A , CM000672.1:g.72201373G>A	GRCh37
NC_000010.9:g.71871379G>A	NCBI36
NG_012448.1:g.5093C>T
NG_012448.2:g.11332C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287139.8:c.51C>T MANE Select	ENSP00000287139.3:p.Leu17=
ENST00000287139.7:c.51C>T	ENSP00000287139.3:p.Leu17=
ENST00000414871.1:c.29-5634C>T	ENSP00000394468.1:n.29-5634C>T
NM_018055.4:c.51C>T	NP_060525.3:p.Leu17=
NM_001329906.1:c.-206-5634C>T	NP_001316835.1:n.-206-5634C>T
XM_024448028.1:c.-207+414C>T	XP_024303796.1:n.-207+414C>T
NM_018055.5:c.51C>T MANE Select	NP_060525.3:p.Leu17=
NM_001329906.2:c.-206-5634C>T	NP_001316835.1:n.-206-5634C>T