Canonical Allele Identifier: CA482620780
Gene: SLC15A4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.129299364A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.128814819A>G , CM000674.2:g.128814819A>G GRCh38
NC_000012.11:g.129299364A>G , CM000674.1:g.129299364A>G GRCh37
NC_000012.10:g.127865317A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000266771.10:c.798T>C MANE Select ENSP00000266771.5:p.Tyr266=
ENST00000266771.9:c.798T>C ENSP00000266771.5:p.Tyr266=
ENST00000366292.6:n.1110T>C
ENST00000376740.8:c.377T>C
ENST00000376744.8:c.634T>C
ENST00000539703.1:n.448T>C
ENST00000614634.1:c.-45T>C ENSP00000483143.1:n.-45T>C
NM_145648.3:c.798T>C NP_663623.1:p.Tyr266=
XM_011537895.1:c.948T>C XP_011536197.1:p.Tyr316=
XR_429081.2:n.821T>C
XR_944494.1:n.971T>C
XR_944495.1:n.971T>C
XR_944496.1:n.971T>C
XR_944497.1:n.971T>C
XM_017018791.1:c.948T>C XP_016874280.1:p.Tyr316=
XM_017018792.1:c.948T>C XP_016874281.1:p.Tyr316=
XM_017018793.1:c.798T>C XP_016874282.1:p.Tyr266=
XR_002957287.1:n.821T>C
XR_944496.2:n.971T>C
NM_145648.4:c.798T>C MANE Select NP_663623.1:p.Tyr266=