Canonical Allele Identifier: CA1081624303

Gene: SLC22A4

Linked Data

• gnomAD v3: 5-132297688-C-A
• gnomAD v4: 5-132297688-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132297688C>A , CM000667.2:g.132297688C>A	GRCh38
NC_000005.9:g.131633381C>A , CM000667.1:g.131633381C>A	GRCh37
NC_000005.8:g.131661280C>A	NCBI36
NG_012129.1:g.8237C>A
NG_012129.2:g.8237C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000200652.4:c.393+2679C>A MANE Select	ENSP00000200652.3:n.393+2679C>A
ENST00000200652.3:c.393+2679C>A	ENSP00000200652.3:n.393+2679C>A
ENST00000491257.1:n.197+2067C>A
NM_003059.2:c.393+2679C>A	NP_003050.2:n.393+2679C>A
XM_006714675.2:c.-32+2679C>A	XP_006714738.1:n.-32+2679C>A
XM_011543589.1:c.393+2679C>A	XP_011541891.1:n.393+2679C>A
XR_948289.1:n.1238+2067C>A
XM_006714675.4:c.-32+2679C>A	XP_006714738.1:n.-32+2679C>A
XM_011543589.2:c.393+2679C>A	XP_011541891.1:n.393+2679C>A
XM_017009776.1:c.-136+2067C>A	XP_016865265.1:n.-136+2067C>A
NM_003059.3:c.393+2679C>A MANE Select	NP_003050.2:n.393+2679C>A