Canonical Allele Identifier: CA1081624298

Gene: SLC22A4

Linked Data

• gnomAD v3: 5-132297674-G-GAA
• gnomAD v4: 5-132297674-G-GAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132297683_132297684dup , CM000667.2:g.132297683_132297684dup	GRCh38
NC_000005.9:g.131633376_131633377dup , CM000667.1:g.131633376_131633377dup	GRCh37
NC_000005.8:g.131661275_131661276dup	NCBI36
NG_012129.1:g.8232_8233dup
NG_012129.2:g.8232_8233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200652.4:c.393+2674_393+2675dup MANE Select	ENSP00000200652.3:n.393+2674_393+2675dup
ENST00000200652.3:c.393+2674_393+2675dup	ENSP00000200652.3:n.393+2674_393+2675dup
ENST00000491257.1:n.197+2062_197+2063dup
NM_003059.2:c.393+2674_393+2675dup	NP_003050.2:n.393+2674_393+2675dup
XM_006714675.2:c.-32+2674_-32+2675dup	XP_006714738.1:n.-32+2674_-32+2675dup
XM_011543589.1:c.393+2674_393+2675dup	XP_011541891.1:n.393+2674_393+2675dup
XR_948289.1:n.1238+2062_1238+2063dup
XM_006714675.4:c.-32+2674_-32+2675dup	XP_006714738.1:n.-32+2674_-32+2675dup
XM_011543589.2:c.393+2674_393+2675dup	XP_011541891.1:n.393+2674_393+2675dup
XM_017009776.1:c.-136+2062_-136+2063dup	XP_016865265.1:n.-136+2062_-136+2063dup
NM_003059.3:c.393+2674_393+2675dup MANE Select	NP_003050.2:n.393+2674_393+2675dup