Canonical Allele Identifier: CA482838120
Gene: SLC15A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.129299534A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128814989A>G , CM000674.2:g.128814989A>G GRCh38
NC_000012.11:g.129299534A>G , CM000674.1:g.129299534A>G GRCh37
NC_000012.10:g.127865487A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.628T>C MANE Select ENSP00000266771.5:p.Leu210=
ENST00000266771.9:c.628T>C ENSP00000266771.5:p.Leu210=
ENST00000366292.6:n.940T>C
ENST00000376740.8:c.207T>C
ENST00000376744.8:c.464T>C
ENST00000535272.1:n.422T>C
ENST00000539703.1:n.278T>C
NM_145648.3:c.628T>C NP_663623.1:p.Leu210=
XM_011537895.1:c.778T>C XP_011536197.1:p.Leu260=
XR_429081.2:n.651T>C
XR_944494.1:n.801T>C
XR_944495.1:n.801T>C
XR_944496.1:n.801T>C
XR_944497.1:n.801T>C
XM_017018791.1:c.778T>C XP_016874280.1:p.Leu260=
XM_017018792.1:c.778T>C XP_016874281.1:p.Leu260=
XM_017018793.1:c.628T>C XP_016874282.1:p.Leu210=
XR_002957287.1:n.651T>C
XR_944496.2:n.801T>C
NM_145648.4:c.628T>C MANE Select NP_663623.1:p.Leu210=