Canonical Allele Identifier: CA404829920
Gene: GDF15 HGNC NCBI

Linked Data

dbSNP Id: rs1218062940
gnomAD v2: 19-18499567-C-T
gnomAD v4: 19-18388757-C-T
MyVariant Identifiers: chr19:g.18499567C>T (hg19) chr19:g.18388757C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18388757C>T , CM000681.2:g.18388757C>T GRCh38
NC_000019.9:g.18499567C>T , CM000681.1:g.18499567C>T GRCh37
NC_000019.8:g.18360567C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000595973.3:c.749C>T ENSP00000470531.3:p.Ala250Val
ENST00000597765.2:c.749C>T ENSP00000469819.2:p.Ala250Val
ENST00000252809.3:c.749C>T MANE Select ENSP00000252809.3:p.Ala250Val
NM_004864.2:c.749C>T NP_004855.2:p.Ala250Val
NM_004864.3:c.749C>T NP_004855.2:p.Ala250Val
XM_024451789.1:c.749C>T XP_024307557.1:p.Ala250Val
NM_004864.4:c.749C>T MANE Select NP_004855.2:p.Ala250Val
Search 100 bp 5'
Search 100 bp 3'