Canonical Allele Identifier: CA387235568

Gene: SLC15A4

Linked Data

• MyVariant Identifiers: chr12:g.129299585T>A (hg19) ; chr12:g.128815040T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.128815040T>A , CM000674.2:g.128815040T>A	GRCh38
NC_000012.11:g.129299585T>A , CM000674.1:g.129299585T>A	GRCh37
NC_000012.10:g.127865538T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000266771.10:c.577A>T MANE Select	ENSP00000266771.5:p.Arg193Ter
ENST00000266771.9:c.577A>T	ENSP00000266771.5:p.Arg193Ter
ENST00000366292.6:n.889A>T
ENST00000376740.8:c.156A>T
ENST00000376744.8:c.413A>T
ENST00000535272.1:n.371A>T
ENST00000539703.1:n.227A>T
NM_145648.3:c.577A>T	NP_663623.1:p.Arg193Ter
XM_011537895.1:c.727A>T	XP_011536197.1:p.Arg243Ter
XR_429081.2:n.600A>T
XR_944494.1:n.750A>T
XR_944495.1:n.750A>T
XR_944496.1:n.750A>T
XR_944497.1:n.750A>T
XM_017018791.1:c.727A>T	XP_016874280.1:p.Arg243Ter
XM_017018792.1:c.727A>T	XP_016874281.1:p.Arg243Ter
XM_017018793.1:c.577A>T	XP_016874282.1:p.Arg193Ter
XR_002957287.1:n.600A>T
XR_944496.2:n.750A>T
NM_145648.4:c.577A>T MANE Select	NP_663623.1:p.Arg193Ter