Canonical Allele Identifier: CA803990618

Gene: SLC22A4

Linked Data

• dbSNP Id: rs1253143498
• gnomAD v3: 5-132297665-C-T
• gnomAD v4: 5-132297665-C-T
• MyVariant Identifiers: chr5:g.131633358C>T (hg19) ; chr5:g.132297665C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132297665C>T , CM000667.2:g.132297665C>T	GRCh38
NC_000005.9:g.131633358C>T , CM000667.1:g.131633358C>T	GRCh37
NC_000005.8:g.131661257C>T	NCBI36
NG_012129.1:g.8214C>T
NG_012129.2:g.8214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200652.4:c.393+2656C>T MANE Select	ENSP00000200652.3:n.393+2656C>T
ENST00000200652.3:c.393+2656C>T	ENSP00000200652.3:n.393+2656C>T
ENST00000491257.1:n.197+2044C>T
NM_003059.2:c.393+2656C>T	NP_003050.2:n.393+2656C>T
XM_006714675.2:c.-32+2656C>T	XP_006714738.1:n.-32+2656C>T
XM_011543589.1:c.393+2656C>T	XP_011541891.1:n.393+2656C>T
XR_948289.1:n.1238+2044C>T
XM_006714675.4:c.-32+2656C>T	XP_006714738.1:n.-32+2656C>T
XM_011543589.2:c.393+2656C>T	XP_011541891.1:n.393+2656C>T
XM_017009776.1:c.-136+2044C>T	XP_016865265.1:n.-136+2044C>T
NM_003059.3:c.393+2656C>T MANE Select	NP_003050.2:n.393+2656C>T