Canonical Allele Identifier: CA376946020

Gene: NODAL

Linked Data

• dbSNP Id: rs1459201685
• gnomAD v2: 10-72195394-C-G
• gnomAD v4: 10-70435638-C-G
• MyVariant Identifiers: chr10:g.72195394C>G (hg19) ; chr10:g.70435638C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.70435638C>G , CM000672.2:g.70435638C>G	GRCh38
NC_000010.10:g.72195394C>G , CM000672.1:g.72195394C>G	GRCh37
NC_000010.9:g.71865400C>G	NCBI36
NG_012448.1:g.11072G>C
NG_012448.2:g.17311G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000287139.8:c.539G>C MANE Select	ENSP00000287139.3:p.Cys180Ser
ENST00000287139.7:c.539G>C	ENSP00000287139.3:p.Cys180Ser
ENST00000414871.1:c.374G>C	ENSP00000394468.1:p.Cys125Ser
NM_018055.4:c.539G>C	NP_060525.3:p.Cys180Ser
NM_001329906.1:c.140G>C	NP_001316835.1:p.Cys47Ser
XM_024448028.1:c.140G>C	XP_024303796.1:p.Cys47Ser
NM_018055.5:c.539G>C MANE Select	NP_060525.3:p.Cys180Ser
NM_001329906.2:c.140G>C	NP_001316835.1:p.Cys47Ser