Canonical Allele Identifier: CA376945493

Gene: NODAL

Linked Data

• gnomAD v4: 10-70435440-A-G
• MyVariant Identifiers: chr10:g.72195196A>G (hg19) ; chr10:g.70435440A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70435440A>G , CM000672.2:g.70435440A>G	GRCh38
NC_000010.10:g.72195196A>G , CM000672.1:g.72195196A>G	GRCh37
NC_000010.9:g.71865202A>G	NCBI36
NG_012448.1:g.11270T>C
NG_012448.2:g.17509T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287139.8:c.737T>C MANE Select	ENSP00000287139.3:p.Leu246Pro
ENST00000287139.7:c.737T>C	ENSP00000287139.3:p.Leu246Pro
ENST00000414871.1:c.572T>C	ENSP00000394468.1:p.Leu191Pro
NM_018055.4:c.737T>C	NP_060525.3:p.Leu246Pro
NM_001329906.1:c.338T>C	NP_001316835.1:p.Leu113Pro
XM_024448028.1:c.338T>C	XP_024303796.1:p.Leu113Pro
NM_018055.5:c.737T>C MANE Select	NP_060525.3:p.Leu246Pro
NM_001329906.2:c.338T>C	NP_001316835.1:p.Leu113Pro