Canonical Allele Identifier: CA3403435
Gene: SLC22A4 HGNC NCBI
MIR3936HG HGNC NCBI

Linked Data

ClinVar Variation Id: 2682905
ClinVar RCV Id: RCV003481772
dbSNP Id: rs781510670
ExAC: 5:131649323 G / A
gnomAD v2: 5-131649323-G-A
gnomAD v3: 5-132313630-G-A
gnomAD v4: 5-132313630-G-A
MyVariant Identifiers: chr5:g.131649323G>A (hg19) chr5:g.132313630G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132313630G>A , CM000667.2:g.132313630G>A GRCh38
NC_000005.9:g.131649323G>A , CM000667.1:g.131649323G>A GRCh37
NC_000005.8:g.131677222G>A NCBI36
NG_012129.1:g.24179G>A
NG_012129.2:g.24179G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000200652.4:c.514G>A (SLC22A4) MANE Select ENSP00000200652.3:p.Val172Ile
ENST00000200652.3:c.514G>A (SLC22A4) ENSP00000200652.3:p.Val172Ile
ENST00000491257.1:n.318G>A (SLC22A4)
NM_003059.2:c.514G>A (SLC22A4) NP_003050.2:p.Val172Ile
NR_110997.1:n.825-1377C>T (MIR3936HG)
XM_006714675.2:c.-15G>A (SLC22A4) XP_006714738.1:n.-15G>A
XM_011543589.1:c.410G>A (SLC22A4) XP_011541891.1:p.Arg137His
XM_006714675.4:c.-15G>A (SLC22A4) XP_006714738.1:n.-15G>A
XM_011543589.2:c.410G>A (SLC22A4) XP_011541891.1:p.Arg137His
XM_017009776.1:c.-15G>A (SLC22A4) XP_016865265.1:n.-15G>A
NM_003059.3:c.514G>A (SLC22A4) MANE Select NP_003050.2:p.Val172Ile
Search 100 bp 5'
Search 100 bp 3'