Canonical Allele Identifier: CA562764593

Gene: SLC22A4

Linked Data

• dbSNP Id: rs1415199141
• gnomAD v2: 5-131633378-C-A
• gnomAD v3: 5-132297685-C-A
• gnomAD v4: 5-132297685-C-A
• MyVariant Identifiers: chr5:g.131633378C>A (hg19) ; chr5:g.132297685C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132297685C>A , CM000667.2:g.132297685C>A	GRCh38
NC_000005.9:g.131633378C>A , CM000667.1:g.131633378C>A	GRCh37
NC_000005.8:g.131661277C>A	NCBI36
NG_012129.1:g.8234C>A
NG_012129.2:g.8234C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200652.4:c.393+2676C>A MANE Select	ENSP00000200652.3:n.393+2676C>A
ENST00000200652.3:c.393+2676C>A	ENSP00000200652.3:n.393+2676C>A
ENST00000491257.1:n.197+2064C>A
NM_003059.2:c.393+2676C>A	NP_003050.2:n.393+2676C>A
XM_006714675.2:c.-32+2676C>A	XP_006714738.1:n.-32+2676C>A
XM_011543589.1:c.393+2676C>A	XP_011541891.1:n.393+2676C>A
XR_948289.1:n.1238+2064C>A
XM_006714675.4:c.-32+2676C>A	XP_006714738.1:n.-32+2676C>A
XM_011543589.2:c.393+2676C>A	XP_011541891.1:n.393+2676C>A
XM_017009776.1:c.-136+2064C>A	XP_016865265.1:n.-136+2064C>A
NM_003059.3:c.393+2676C>A MANE Select	NP_003050.2:n.393+2676C>A