Canonical Allele Identifier: CA5260898
Gene: SLC27A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 3008242
ClinVar RCV Id: RCV003866905
dbSNP Id: rs760973751
ExAC: 9:131107560 G / A
gnomAD v2: 9-131107560-G-A
gnomAD v4: 9-128345281-G-A
MyVariant Identifiers: chr9:g.131107560G>A (hg19) chr9:g.128345281G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128345281G>A , CM000671.2:g.128345281G>A GRCh38
NC_000009.11:g.131107560G>A , CM000671.1:g.131107560G>A GRCh37
NC_000009.10:g.130147381G>A NCBI36
NG_017057.1:g.9722G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000300456.5:c.288G>A MANE Select ENSP00000300456.3:p.Glu96=
ENST00000300456.4:c.288G>A ENSP00000300456.3:p.Glu96=
ENST00000372870.5:c.231+2000G>A ENSP00000361961.1:n.231+2000G>A
NM_005094.3:c.288G>A NP_005085.2:p.Glu96=
XM_017014222.1:c.288G>A XP_016869711.1:p.Glu96=
XM_024447391.1:c.288G>A XP_024303159.1:p.Glu96=
NM_005094.4:c.288G>A MANE Select NP_005085.2:p.Glu96=
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