Canonical Allele Identifier: CA415086484
Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583101
ClinVar RCV Id: RCV003334344
MyVariant Identifiers: chrX:g.152959428G>C (hg19) chrX:g.153693973G>C (hg38)
ERepo: CA415086484/MONDO:0010305/027
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693973G>C , CM000685.2:g.153693973G>C GRCh38
NC_000023.10:g.152959428G>C , CM000685.1:g.152959428G>C GRCh37
NC_000023.9:g.152612622G>C NCBI36
NG_012016.1:g.10677G>C
NG_012016.2:g.10677G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1210G>C MANE Select ENSP00000253122.5:p.Ala404Pro
ENST00000253122.9:c.1210G>C ENSP00000253122.5:p.Ala404Pro
ENST00000413787.1:c.258-231G>C ENSP00000400463.1:n.258-231G>C
ENST00000430077.6:c.865G>C ENSP00000403041.2:p.Ala289Pro
ENST00000442457.1:c.264G>C
ENST00000457723.1:c.194G>C ENSP00000394742.1:p.Cys65Ser
ENST00000485324.1:n.1243G>C
NM_001142805.1:c.1180G>C NP_001136277.1:p.Ala394Pro
NM_001142806.1:c.865G>C NP_001136278.1:p.Ala289Pro
NM_005629.3:c.1210G>C NP_005620.1:p.Ala404Pro
NM_005629.4:c.1210G>C MANE Select NP_005620.1:p.Ala404Pro
NM_001142805.2:c.1180G>C NP_001136277.1:p.Ala394Pro
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