Canonical Allele Identifier: CA10549409
Community Standard Title: NM_005629.4(SLC6A8):c.1025T>C (p.Ile342Thr)
Gene: SLC6A8 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693470T>C , CM000685.2:g.153693470T>C GRCh38
NC_000023.10:g.152958925T>C , CM000685.1:g.152958925T>C GRCh37
NC_000023.9:g.152612119T>C NCBI36
NG_012016.1:g.10174T>C
NG_012016.2:g.10174T>C

Transcript Alleles

HGVS Amino-acid Change
NM_005629.4:c.1025T>C MANE Select NP_005620.1:p.Ile342Thr
ENST00000253122.10:c.1025T>C MANE Select ENSP00000253122.5:p.Ile342Thr
NM_001142805.1:c.1017-22T>C NP_001136277.1:n.1017-22T>C
NM_001142805.2:c.1017-22T>C NP_001136277.1:n.1017-22T>C
NM_001142806.1:c.680T>C NP_001136278.1:p.Ile227Thr
NM_005629.3:c.1025T>C NP_005620.1:p.Ile342Thr
ENST00000253122.9:c.1025T>C ENSP00000253122.5:p.Ile342Thr
ENST00000413787.1:c.163-22T>C ENSP00000400463.1:n.163-22T>C
ENST00000430077.6:c.680T>C ENSP00000403041.2:p.Ile227Thr
ENST00000442457.1:c.101-22T>C
ENST00000457723.1:c.9T>C ENSP00000394742.1:p.His3=
ENST00000467402.1:n.146-22T>C
ENST00000485324.1:n.1058T>C
Search 100 bp 5'
Search 100 bp 3'