Canonical Allele Identifier: CA482838111
Gene: SLC15A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.129299523A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128814978A>G , CM000674.2:g.128814978A>G GRCh38
NC_000012.11:g.129299523A>G , CM000674.1:g.129299523A>G GRCh37
NC_000012.10:g.127865476A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.639T>C MANE Select ENSP00000266771.5:p.Ile213=
ENST00000266771.9:c.639T>C ENSP00000266771.5:p.Ile213=
ENST00000366292.6:n.951T>C
ENST00000376740.8:c.218T>C
ENST00000376744.8:c.475T>C
ENST00000535272.1:n.433T>C
ENST00000539703.1:n.289T>C
NM_145648.3:c.639T>C NP_663623.1:p.Ile213=
XM_011537895.1:c.789T>C XP_011536197.1:p.Ile263=
XR_429081.2:n.662T>C
XR_944494.1:n.812T>C
XR_944495.1:n.812T>C
XR_944496.1:n.812T>C
XR_944497.1:n.812T>C
XM_017018791.1:c.789T>C XP_016874280.1:p.Ile263=
XM_017018792.1:c.789T>C XP_016874281.1:p.Ile263=
XM_017018793.1:c.639T>C XP_016874282.1:p.Ile213=
XR_002957287.1:n.662T>C
XR_944496.2:n.812T>C
NM_145648.4:c.639T>C MANE Select NP_663623.1:p.Ile213=