Canonical Allele Identifier: CA404828346

Gene: GDF15

Linked Data

• dbSNP Id: rs754819829
• gnomAD v4: 19-18388585-C-T
• MyVariant Identifiers: chr19:g.18499395C>T (hg19) ; chr19:g.18388585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18388585C>T , CM000681.2:g.18388585C>T	GRCh38
NC_000019.9:g.18499395C>T , CM000681.1:g.18499395C>T	GRCh37
NC_000019.8:g.18360395C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000595973.3:c.577C>T	ENSP00000470531.3:p.Arg193Cys
ENST00000597765.2:c.577C>T	ENSP00000469819.2:p.Arg193Cys
ENST00000252809.3:c.577C>T MANE Select	ENSP00000252809.3:p.Arg193Cys
NM_004864.2:c.577C>T	NP_004855.2:p.Arg193Cys
NM_004864.3:c.577C>T	NP_004855.2:p.Arg193Cys
XM_024451789.1:c.577C>T	XP_024307557.1:p.Arg193Cys
NM_004864.4:c.577C>T MANE Select	NP_004855.2:p.Arg193Cys