Canonical Allele Identifier: CA6029417

Gene: SLC15A3

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.60937996G>A , CM000673.2:g.60937996G>A	GRCh38
NC_000011.9:g.60705468G>A , CM000673.1:g.60705468G>A	GRCh37
NC_000011.8:g.60462044G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_016582.3:c.1465C>T MANE Select	NP_057666.1:p.Arg489Cys
ENST00000227880.8:c.1465C>T MANE Select	ENSP00000227880.2:p.Arg489Cys
NM_016582.2:c.1465C>T	NP_057666.1:p.Arg489Cys
NR_027391.1:n.1530C>T
NR_027391.2:n.1921C>T
ENST00000227880.7:c.1465C>T	ENSP00000227880.2:p.Arg489Cys
ENST00000536491.2:c.904C>T	ENSP00000439535.2:p.Arg302Cys
ENST00000536784.6:c.735C>T	ENSP00000441694.2:p.Arg245=
ENST00000537307.1:c.462C>T
ENST00000538739.2:c.1066C>T	ENSP00000441559.2:p.Arg356Cys
ENST00000541505.5:c.1296C>T	ENSP00000445773.1:p.Arg432=
ENST00000543406.1:n.4170C>T
ENST00000544101.1:n.137C>T
ENST00000618622.4:c.*522C>T	ENSP00000479400.1:n.*522C>T
ENST00000621824.4:c.*353C>T	ENSP00000484264.1:n.*353C>T
ENST00000679573.1:c.1459C>T	ENSP00000505011.1:p.Arg487Cys
ENST00000681275.1:c.1465C>T	ENSP00000505077.1:p.Arg489Cys
ENST00000681882.1:c.1430-623C>T	ENSP00000506396.1:n.1430-623C>T
ENST00000681951.1:c.1261-623C>T	ENSP00000506057.1:n.1261-623C>T
XM_011545095.1:c.1465C>T	XP_011543397.1:p.Arg489Cys
XM_011545095.2:c.1465C>T	XP_011543397.1:p.Arg489Cys
XR_949960.1:n.2271C>T
XR_949960.2:n.1826C>T