Canonical Allele Identifier: CA404829899
Gene: GDF15 HGNC NCBI

Linked Data

dbSNP Id: rs1064601
gnomAD v3: 19-18388753-C-T
gnomAD v4: 19-18388753-C-T
MyVariant Identifiers: chr19:g.18499563C>T (hg19) chr19:g.18388753C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18388753C>T , CM000681.2:g.18388753C>T GRCh38
NC_000019.9:g.18499563C>T , CM000681.1:g.18499563C>T GRCh37
NC_000019.8:g.18360563C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000595973.3:c.745C>T ENSP00000470531.3:p.Arg249Trp
ENST00000597765.2:c.745C>T ENSP00000469819.2:p.Arg249Trp
ENST00000252809.3:c.745C>T MANE Select ENSP00000252809.3:p.Arg249Trp
NM_004864.2:c.745C>T NP_004855.2:p.Arg249Trp
NM_004864.3:c.745C>T NP_004855.2:p.Arg249Trp
XM_024451789.1:c.745C>T XP_024307557.1:p.Arg249Trp
NM_004864.4:c.745C>T MANE Select NP_004855.2:p.Arg249Trp
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