Canonical Allele Identifier: CA415086511
Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1019897
dbSNP Id: rs2091472678

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693977T>C , CM000685.2:g.153693977T>C GRCh38
NC_000023.10:g.152959432T>C , CM000685.1:g.152959432T>C GRCh37
NC_000023.9:g.152612626T>C NCBI36
NG_012016.1:g.10681T>C
NG_012016.2:g.10681T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1214T>C MANE Select ENSP00000253122.5:p.Leu405Pro
ENST00000253122.9:c.1214T>C ENSP00000253122.5:p.Leu405Pro
ENST00000413787.1:c.258-227T>C ENSP00000400463.1:n.258-227T>C
ENST00000430077.6:c.869T>C ENSP00000403041.2:p.Leu290Pro
ENST00000442457.1:c.268T>C
ENST00000457723.1:c.198T>C ENSP00000394742.1:p.Pro66=
ENST00000485324.1:n.1247T>C
NM_001142805.1:c.1184T>C NP_001136277.1:p.Leu395Pro
NM_001142806.1:c.869T>C NP_001136278.1:p.Leu290Pro
NM_005629.3:c.1214T>C NP_005620.1:p.Leu405Pro
NM_005629.4:c.1214T>C MANE Select NP_005620.1:p.Leu405Pro
NM_001142805.2:c.1184T>C NP_001136277.1:p.Leu395Pro