Canonical Allele Identifier: CA482838025
Gene: SLC15A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.129299379G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128814834G>A , CM000674.2:g.128814834G>A GRCh38
NC_000012.11:g.129299379G>A , CM000674.1:g.129299379G>A GRCh37
NC_000012.10:g.127865332G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.783C>T MANE Select ENSP00000266771.5:p.Phe261=
ENST00000266771.9:c.783C>T ENSP00000266771.5:p.Phe261=
ENST00000366292.6:n.1095C>T
ENST00000376740.8:c.362C>T
ENST00000376744.8:c.619C>T
ENST00000539703.1:n.433C>T
ENST00000614634.1:c.-60C>T ENSP00000483143.1:n.-60C>T
NM_145648.3:c.783C>T NP_663623.1:p.Phe261=
XM_011537895.1:c.933C>T XP_011536197.1:p.Phe311=
XR_429081.2:n.806C>T
XR_944494.1:n.956C>T
XR_944495.1:n.956C>T
XR_944496.1:n.956C>T
XR_944497.1:n.956C>T
XM_017018791.1:c.933C>T XP_016874280.1:p.Phe311=
XM_017018792.1:c.933C>T XP_016874281.1:p.Phe311=
XM_017018793.1:c.783C>T XP_016874282.1:p.Phe261=
XR_002957287.1:n.806C>T
XR_944496.2:n.956C>T
NM_145648.4:c.783C>T MANE Select NP_663623.1:p.Phe261=