Canonical Allele Identifier: CA2581463899
Gene: SLC22A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132297662T>G , CM000667.2:g.132297662T>G GRCh38
NC_000005.9:g.131633355T>G , CM000667.1:g.131633355T>G GRCh37
NC_000005.8:g.131661254T>G NCBI36
NG_012129.1:g.8211T>G
NG_012129.2:g.8211T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000200652.4:c.393+2653T>G MANE Select ENSP00000200652.3:n.393+2653T>G
ENST00000200652.3:c.393+2653T>G ENSP00000200652.3:n.393+2653T>G
ENST00000491257.1:n.197+2041T>G
NM_003059.2:c.393+2653T>G NP_003050.2:n.393+2653T>G
XM_006714675.2:c.-32+2653T>G XP_006714738.1:n.-32+2653T>G
XM_011543589.1:c.393+2653T>G XP_011541891.1:n.393+2653T>G
XR_948289.1:n.1238+2041T>G
XM_006714675.4:c.-32+2653T>G XP_006714738.1:n.-32+2653T>G
XM_011543589.2:c.393+2653T>G XP_011541891.1:n.393+2653T>G
XM_017009776.1:c.-136+2041T>G XP_016865265.1:n.-136+2041T>G
NM_003059.3:c.393+2653T>G MANE Select NP_003050.2:n.393+2653T>G