Canonical Allele Identifier: CA562762139

Gene: SLC22A4 MIR3936HG

Linked Data

• dbSNP Id: rs1561538609
• gnomAD v2: 5-131649323-G-GC
• gnomAD v4: 5-132313630-G-GC
• MyVariant Identifiers: chr5:g.131649323_131649324insC (hg19) ; chr5:g.132313630_132313631insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132313630_132313631insC , CM000667.2:g.132313630_132313631insC	GRCh38
NC_000005.9:g.131649323_131649324insC , CM000667.1:g.131649323_131649324insC	GRCh37
NC_000005.8:g.131677222_131677223insC	NCBI36
NG_012129.1:g.24179_24180insC
NG_012129.2:g.24179_24180insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200652.4:c.514_515insC (SLC22A4) MANE Select	ENSP00000200652.3:p.Val172AlafsTer?
ENST00000200652.3:c.514_515insC (SLC22A4)	ENSP00000200652.3:p.Val172AlafsTer?
ENST00000491257.1:n.318_319insC (SLC22A4)
NM_003059.2:c.514_515insC (SLC22A4)	NP_003050.2:p.Val172AlafsTer?
NR_110997.1:n.825-1378_825-1377insG (MIR3936HG)
XM_006714675.2:c.-15_-14insC (SLC22A4)	XP_006714738.1:n.-15_-14insC
XM_011543589.1:c.410_411insC (SLC22A4)	XP_011541891.1:p.Ser138PhefsTer?
XM_006714675.4:c.-15_-14insC (SLC22A4)	XP_006714738.1:n.-15_-14insC
XM_011543589.2:c.410_411insC (SLC22A4)	XP_011541891.1:p.Ser138PhefsTer?
XM_017009776.1:c.-15_-14insC (SLC22A4)	XP_016865265.1:n.-15_-14insC
NM_003059.3:c.514_515insC (SLC22A4) MANE Select	NP_003050.2:p.Val172AlafsTer?