Canonical Allele Identifier: CA376946073

Gene: NODAL

Linked Data

• dbSNP Id: rs1845339320
• gnomAD v4: 10-70435651-C-T
• MyVariant Identifiers: chr10:g.72195407C>T (hg19) ; chr10:g.70435651C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70435651C>T , CM000672.2:g.70435651C>T	GRCh38
NC_000010.10:g.72195407C>T , CM000672.1:g.72195407C>T	GRCh37
NC_000010.9:g.71865413C>T	NCBI36
NG_012448.1:g.11059G>A
NG_012448.2:g.17298G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000287139.8:c.526G>A MANE Select	ENSP00000287139.3:p.Val176Ile
ENST00000287139.7:c.526G>A	ENSP00000287139.3:p.Val176Ile
ENST00000414871.1:c.361G>A	ENSP00000394468.1:p.Val121Ile
NM_018055.4:c.526G>A	NP_060525.3:p.Val176Ile
NM_001329906.1:c.127G>A	NP_001316835.1:p.Val43Ile
XM_024448028.1:c.127G>A	XP_024303796.1:p.Val43Ile
NM_018055.5:c.526G>A MANE Select	NP_060525.3:p.Val176Ile
NM_001329906.2:c.127G>A	NP_001316835.1:p.Val43Ile