Canonical Allele Identifier: CA482838137
Gene: SLC15A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.129299556A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128815011A>T , CM000674.2:g.128815011A>T GRCh38
NC_000012.11:g.129299556A>T , CM000674.1:g.129299556A>T GRCh37
NC_000012.10:g.127865509A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.606T>A MANE Select ENSP00000266771.5:p.Ile202=
ENST00000266771.9:c.606T>A ENSP00000266771.5:p.Ile202=
ENST00000366292.6:n.918T>A
ENST00000376740.8:c.185T>A
ENST00000376744.8:c.442T>A
ENST00000535272.1:n.400T>A
ENST00000539703.1:n.256T>A
NM_145648.3:c.606T>A NP_663623.1:p.Ile202=
XM_011537895.1:c.756T>A XP_011536197.1:p.Ile252=
XR_429081.2:n.629T>A
XR_944494.1:n.779T>A
XR_944495.1:n.779T>A
XR_944496.1:n.779T>A
XR_944497.1:n.779T>A
XM_017018791.1:c.756T>A XP_016874280.1:p.Ile252=
XM_017018792.1:c.756T>A XP_016874281.1:p.Ile252=
XM_017018793.1:c.606T>A XP_016874282.1:p.Ile202=
XR_002957287.1:n.629T>A
XR_944496.2:n.779T>A
NM_145648.4:c.606T>A MANE Select NP_663623.1:p.Ile202=