Canonical Allele Identifier: CA9718148

Gene: SLC27A5

Linked Data

• ClinVar Variation Id: 289551
• ClinVar RCV Id: RCV000404832 ; RCV003977808
• dbSNP Id: rs146682651
• ExAC: 19:59021337 C / T
• gnomAD v2: 19-59021337-C-T
• gnomAD v3: 19-58509970-C-T
• gnomAD v4: 19-58509970-C-T
• MyVariant Identifiers: chr19:g.59021337C>T (hg19) ; chr19:g.58509970C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.58509970C>T , CM000681.2:g.58509970C>T	GRCh38
NC_000019.9:g.59021337C>T , CM000681.1:g.59021337C>T	GRCh37
NC_000019.8:g.63713149C>T	NCBI36
NG_047124.1:g.7096G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263093.7:c.934G>A MANE Select	ENSP00000263093.2:p.Val312Ile
ENST00000263093.6:c.934G>A	ENSP00000263093.2:p.Val312Ile
ENST00000593745.1:n.2444G>A
ENST00000594683.1:n.203G>A
ENST00000601355.1:c.682G>A	ENSP00000470368.1:p.Val228Ile
NM_012254.2:c.934G>A	NP_036386.1:p.Val312Ile
XM_011526363.1:c.682G>A	XP_011524665.1:p.Val228Ile
XM_011526364.1:c.934G>A	XP_011524666.1:p.Val312Ile
NM_001321196.1:c.682G>A	NP_001308125.1:p.Val228Ile
XM_011526364.2:c.934G>A	XP_011524666.1:p.Val312Ile
XM_017026214.2:c.934G>A	XP_016881703.1:p.Val312Ile
XR_001754024.1:n.1393C>T
NM_012254.3:c.934G>A MANE Select	NP_036386.1:p.Val312Ile
NM_001321196.2:c.682G>A	NP_001308125.1:p.Val228Ile