Canonical Allele Identifier: CA9310766
Gene: GDF15 HGNC NCBI

Linked Data

ClinVar Variation Id: 3099241
ClinVar RCV Id: RCV004387587
dbSNP Id: rs769997784
ExAC: 19:18499378 A / T
gnomAD v2: 19-18499378-A-T
gnomAD v4: 19-18388568-A-T
MyVariant Identifiers: chr19:g.18499378A>T (hg19) chr19:g.18388568A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18388568A>T , CM000681.2:g.18388568A>T GRCh38
NC_000019.9:g.18499378A>T , CM000681.1:g.18499378A>T GRCh37
NC_000019.8:g.18360378A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000595973.3:c.560A>T ENSP00000470531.3:p.Gln187Leu
ENST00000597765.2:c.560A>T ENSP00000469819.2:p.Gln187Leu
ENST00000252809.3:c.560A>T MANE Select ENSP00000252809.3:p.Gln187Leu
NM_004864.2:c.560A>T NP_004855.2:p.Gln187Leu
NM_004864.3:c.560A>T NP_004855.2:p.Gln187Leu
XM_024451789.1:c.560A>T XP_024307557.1:p.Gln187Leu
NM_004864.4:c.560A>T MANE Select NP_004855.2:p.Gln187Leu
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