Canonical Allele Identifier: CA5537586

Gene: NODAL

Linked Data

• dbSNP Id: rs779955350
• ExAC: 10:72195401 C / T
• gnomAD v2: 10-72195401-C-T
• gnomAD v4: 10-70435645-C-T
• MyVariant Identifiers: chr10:g.72195401C>T (hg19) ; chr10:g.70435645C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70435645C>T , CM000672.2:g.70435645C>T	GRCh38
NC_000010.10:g.72195401C>T , CM000672.1:g.72195401C>T	GRCh37
NC_000010.9:g.71865407C>T	NCBI36
NG_012448.1:g.11065G>A
NG_012448.2:g.17304G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000287139.8:c.532G>A MANE Select	ENSP00000287139.3:p.Gly178Arg
ENST00000287139.7:c.532G>A	ENSP00000287139.3:p.Gly178Arg
ENST00000414871.1:c.367G>A	ENSP00000394468.1:p.Gly123Arg
NM_018055.4:c.532G>A	NP_060525.3:p.Gly178Arg
NM_001329906.1:c.133G>A	NP_001316835.1:p.Gly45Arg
XM_024448028.1:c.133G>A	XP_024303796.1:p.Gly45Arg
NM_018055.5:c.532G>A MANE Select	NP_060525.3:p.Gly178Arg
NM_001329906.2:c.133G>A	NP_001316835.1:p.Gly45Arg