Canonical Allele Identifier: CA2613777619
Community Standard Title: NM_016582.3(SLC15A3):c.1107+49T>C
Gene: SLC15A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.60941986A>G , CM000673.2:g.60941986A>G GRCh38
NC_000011.9:g.60709458A>G , CM000673.1:g.60709458A>G GRCh37
NC_000011.8:g.60466034A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_016582.3:c.1107+49T>C MANE Select NP_057666.1:n.1107+49T>C
ENST00000227880.8:c.1107+49T>C MANE Select ENSP00000227880.2:n.1107+49T>C
NM_016582.2:c.1107+49T>C NP_057666.1:n.1107+49T>C
NR_027391.1:n.1341+49T>C
NR_027391.2:n.1732+49T>C
ENST00000227880.7:c.1107+49T>C ENSP00000227880.2:n.1107+49T>C
ENST00000536491.1:c.546+49T>C ENSP00000439535.1:n.546+49T>C
ENST00000536491.2:c.546+49T>C ENSP00000439535.2:n.546+49T>C
ENST00000536784.6:c.546+49T>C ENSP00000441694.2:n.546+49T>C
ENST00000537307.1:c.105-696T>C
ENST00000538739.2:c.708+49T>C ENSP00000441559.2:n.708+49T>C
ENST00000541505.5:c.1107+49T>C ENSP00000445773.1:n.1107+49T>C
ENST00000543406.1:n.1634T>C
ENST00000618622.4:c.*164+49T>C ENSP00000479400.1:n.*164+49T>C
ENST00000621824.4:c.*164+49T>C ENSP00000484264.1:n.*164+49T>C
ENST00000679573.1:c.1101+49T>C ENSP00000505011.1:n.1101+49T>C
ENST00000681015.1:n.1352T>C
ENST00000681275.1:c.1107+49T>C ENSP00000505077.1:n.1107+49T>C
ENST00000681882.1:c.1101+49T>C ENSP00000506396.1:n.1101+49T>C
ENST00000681951.1:c.1101+49T>C ENSP00000506057.1:n.1101+49T>C
XM_011545095.1:c.1107+49T>C XP_011543397.1:n.1107+49T>C
XM_011545095.2:c.1107+49T>C XP_011543397.1:n.1107+49T>C
XR_949960.1:n.2082+49T>C
XR_949960.2:n.1637+49T>C