Canonical Allele Identifier: CA117718
Gene: SLC22A4 HGNC NCBI

Linked Data

ClinVar Variation Id: 5750
dbSNP Id: rs1050152

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132340627C>T , CM000667.2:g.132340627C>T GRCh38
NC_000005.9:g.131676320C>T , CM000667.1:g.131676320C>T GRCh37
NC_000005.8:g.131704219C>T NCBI36
NG_012129.1:g.51176C>T
NG_012129.2:g.51176C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000200652.4:c.1507C>T MANE Select ENSP00000200652.3:p.Leu503Phe
ENST00000200652.3:c.1507C>T ENSP00000200652.3:p.Leu503Phe
NM_003059.2:c.1507C>T NP_003050.2:p.Leu503Phe
NR_110997.1:n.561-5701G>A
XM_006714675.2:c.979C>T XP_006714738.1:p.Leu327Phe
XM_011543589.1:c.1231C>T XP_011541891.1:p.Leu411Phe
XM_006714675.4:c.979C>T XP_006714738.1:p.Leu327Phe
XM_011543589.2:c.1231C>T XP_011541891.1:p.Leu411Phe
XM_017009776.1:c.979C>T XP_016865265.1:p.Leu327Phe
NM_003059.3:c.1507C>T MANE Select NP_003050.2:p.Leu503Phe