Canonical Allele Identifier: CA360813176

Gene: SLC22A4 MIR3936HG

Linked Data

• ClinVar Variation Id: 2780735
• ClinVar RCV Id: RCV003659576
• dbSNP Id: rs1751187098
• gnomAD v3: 5-132340633-C-A
• gnomAD v4: 5-132340633-C-A
• MyVariant Identifiers: chr5:g.131676326C>A (hg19) ; chr5:g.132340633C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132340633C>A , CM000667.2:g.132340633C>A	GRCh38
NC_000005.9:g.131676326C>A , CM000667.1:g.131676326C>A	GRCh37
NC_000005.8:g.131704225C>A	NCBI36
NG_012129.1:g.51182C>A
NG_012129.2:g.51182C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200652.4:c.1513C>A (SLC22A4) MANE Select	ENSP00000200652.3:p.Leu505Ile
ENST00000200652.3:c.1513C>A (SLC22A4)	ENSP00000200652.3:p.Leu505Ile
NM_003059.2:c.1513C>A (SLC22A4)	NP_003050.2:p.Leu505Ile
NR_110997.1:n.561-5707G>T (MIR3936HG)
XM_006714675.2:c.985C>A (SLC22A4)	XP_006714738.1:p.Leu329Ile
XM_011543589.1:c.1237C>A (SLC22A4)	XP_011541891.1:p.Leu413Ile
XM_006714675.4:c.985C>A (SLC22A4)	XP_006714738.1:p.Leu329Ile
XM_011543589.2:c.1237C>A (SLC22A4)	XP_011541891.1:p.Leu413Ile
XM_017009776.1:c.985C>A (SLC22A4)	XP_016865265.1:p.Leu329Ile
NM_003059.3:c.1513C>A (SLC22A4) MANE Select	NP_003050.2:p.Leu505Ile