Canonical Allele Identifier: CA482838119
Gene: SLC15A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.129299532T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128814987T>C , CM000674.2:g.128814987T>C GRCh38
NC_000012.11:g.129299532T>C , CM000674.1:g.129299532T>C GRCh37
NC_000012.10:g.127865485T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.630A>G MANE Select ENSP00000266771.5:p.Leu210=
ENST00000266771.9:c.630A>G ENSP00000266771.5:p.Leu210=
ENST00000366292.6:n.942A>G
ENST00000376740.8:c.209A>G
ENST00000376744.8:c.466A>G
ENST00000535272.1:n.424A>G
ENST00000539703.1:n.280A>G
NM_145648.3:c.630A>G NP_663623.1:p.Leu210=
XM_011537895.1:c.780A>G XP_011536197.1:p.Leu260=
XR_429081.2:n.653A>G
XR_944494.1:n.803A>G
XR_944495.1:n.803A>G
XR_944496.1:n.803A>G
XR_944497.1:n.803A>G
XM_017018791.1:c.780A>G XP_016874280.1:p.Leu260=
XM_017018792.1:c.780A>G XP_016874281.1:p.Leu260=
XM_017018793.1:c.630A>G XP_016874282.1:p.Leu210=
XR_002957287.1:n.653A>G
XR_944496.2:n.803A>G
NM_145648.4:c.630A>G MANE Select NP_663623.1:p.Leu210=