Canonical Allele Identifier: CA482838036
Gene: SLC15A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.129299403A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128814858A>G , CM000674.2:g.128814858A>G GRCh38
NC_000012.11:g.129299403A>G , CM000674.1:g.129299403A>G GRCh37
NC_000012.10:g.127865356A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.759T>C MANE Select ENSP00000266771.5:p.Asp253=
ENST00000266771.9:c.759T>C ENSP00000266771.5:p.Asp253=
ENST00000366292.6:n.1071T>C
ENST00000376740.8:c.338T>C
ENST00000376744.8:c.595T>C
ENST00000539703.1:n.409T>C
ENST00000614634.1:c.-84T>C ENSP00000483143.1:n.-84T>C
NM_145648.3:c.759T>C NP_663623.1:p.Asp253=
XM_011537895.1:c.909T>C XP_011536197.1:p.Asp303=
XR_429081.2:n.782T>C
XR_944494.1:n.932T>C
XR_944495.1:n.932T>C
XR_944496.1:n.932T>C
XR_944497.1:n.932T>C
XM_017018791.1:c.909T>C XP_016874280.1:p.Asp303=
XM_017018792.1:c.909T>C XP_016874281.1:p.Asp303=
XM_017018793.1:c.759T>C XP_016874282.1:p.Asp253=
XR_002957287.1:n.782T>C
XR_944496.2:n.932T>C
NM_145648.4:c.759T>C MANE Select NP_663623.1:p.Asp253=