Canonical Allele Identifier: CA5260895
Gene: SLC27A4 HGNC NCBI

Linked Data

dbSNP Id: rs748282554
ExAC: 9:131107552 A / T
gnomAD v2: 9-131107552-A-T
gnomAD v3: 9-128345273-A-T
gnomAD v4: 9-128345273-A-T
MyVariant Identifiers: chr9:g.131107552A>T (hg19) chr9:g.128345273A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128345273A>T , CM000671.2:g.128345273A>T GRCh38
NC_000009.11:g.131107552A>T , CM000671.1:g.131107552A>T GRCh37
NC_000009.10:g.130147373A>T NCBI36
NG_017057.1:g.9714A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000300456.5:c.280A>T MANE Select ENSP00000300456.3:p.Ile94Phe
ENST00000300456.4:c.280A>T ENSP00000300456.3:p.Ile94Phe
ENST00000372870.5:c.231+1992A>T ENSP00000361961.1:n.231+1992A>T
NM_005094.3:c.280A>T NP_005085.2:p.Ile94Phe
XM_017014222.1:c.280A>T XP_016869711.1:p.Ile94Phe
XM_024447391.1:c.280A>T XP_024303159.1:p.Ile94Phe
NM_005094.4:c.280A>T MANE Select NP_005085.2:p.Ile94Phe
Search 100 bp 5'
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