Canonical Allele Identifier: CA376945494

Gene: NODAL

Linked Data

• MyVariant Identifiers: chr10:g.72195196A>T (hg19) ; chr10:g.70435440A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000287139.8:c.737T>A MANE Select	ENSP00000287139.3:p.Leu246Gln
ENST00000287139.7:c.737T>A	ENSP00000287139.3:p.Leu246Gln
ENST00000414871.1:c.572T>A	ENSP00000394468.1:p.Leu191Gln
NM_018055.4:c.737T>A	NP_060525.3:p.Leu246Gln
NM_001329906.1:c.338T>A	NP_001316835.1:p.Leu113Gln
XM_024448028.1:c.338T>A	XP_024303796.1:p.Leu113Gln
NM_018055.5:c.737T>A MANE Select	NP_060525.3:p.Leu246Gln
NM_001329906.2:c.338T>A	NP_001316835.1:p.Leu113Gln