Canonical Allele Identifier: CA376947134

Gene: NODAL

Linked Data

• dbSNP Id: rs1192993371
• gnomAD v2: 10-72201368-G-T
• gnomAD v3: 10-70441612-G-T
• gnomAD v4: 10-70441612-G-T
• MyVariant Identifiers: chr10:g.72201368G>T (hg19) ; chr10:g.70441612G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70441612G>T , CM000672.2:g.70441612G>T	GRCh38
NC_000010.10:g.72201368G>T , CM000672.1:g.72201368G>T	GRCh37
NC_000010.9:g.71871374G>T	NCBI36
NG_012448.1:g.5098C>A
NG_012448.2:g.11337C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287139.8:c.56C>A MANE Select	ENSP00000287139.3:p.Ala19Glu
ENST00000287139.7:c.56C>A	ENSP00000287139.3:p.Ala19Glu
ENST00000414871.1:c.29-5629C>A	ENSP00000394468.1:n.29-5629C>A
NM_018055.4:c.56C>A	NP_060525.3:p.Ala19Glu
NM_001329906.1:c.-206-5629C>A	NP_001316835.1:n.-206-5629C>A
XM_024448028.1:c.-207+419C>A	XP_024303796.1:n.-207+419C>A
NM_018055.5:c.56C>A MANE Select	NP_060525.3:p.Ala19Glu
NM_001329906.2:c.-206-5629C>A	NP_001316835.1:n.-206-5629C>A