Canonical Allele Identifier: CA482838144
Gene: SLC15A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.129299588T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128815043T>G , CM000674.2:g.128815043T>G GRCh38
NC_000012.11:g.129299588T>G , CM000674.1:g.129299588T>G GRCh37
NC_000012.10:g.127865541T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.574A>C MANE Select ENSP00000266771.5:p.Arg192=
ENST00000266771.9:c.574A>C ENSP00000266771.5:p.Arg192=
ENST00000366292.6:n.886A>C
ENST00000376740.8:c.153A>C
ENST00000376744.8:c.410A>C
ENST00000535272.1:n.368A>C
ENST00000539703.1:n.224A>C
NM_145648.3:c.574A>C NP_663623.1:p.Arg192=
XM_011537895.1:c.724A>C XP_011536197.1:p.Arg242=
XR_429081.2:n.597A>C
XR_944494.1:n.747A>C
XR_944495.1:n.747A>C
XR_944496.1:n.747A>C
XR_944497.1:n.747A>C
XM_017018791.1:c.724A>C XP_016874280.1:p.Arg242=
XM_017018792.1:c.724A>C XP_016874281.1:p.Arg242=
XM_017018793.1:c.574A>C XP_016874282.1:p.Arg192=
XR_002957287.1:n.597A>C
XR_944496.2:n.747A>C
NM_145648.4:c.574A>C MANE Select NP_663623.1:p.Arg192=