Canonical Allele Identifier: CA519184863
Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1615191
ClinVar RCV Id: RCV002079177
dbSNP Id: rs781916894
gnomAD v3: X-153690445-G-C
gnomAD v4: X-153690445-G-C
MyVariant Identifiers: chrX:g.152955900G>C (hg19) chrX:g.153690445G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690445G>C , CM000685.2:g.153690445G>C GRCh38
NC_000023.10:g.152955900G>C , CM000685.1:g.152955900G>C GRCh37
NC_000023.9:g.152609094G>C NCBI36
NG_012016.1:g.7149G>C
NG_012016.2:g.7149G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.333G>C MANE Select ENSP00000253122.5:p.Ser111=
ENST00000675713.1:n.87G>C
ENST00000253122.9:c.333G>C ENSP00000253122.5:p.Ser111=
ENST00000430077.6:c.-13G>C ENSP00000403041.2:n.-13G>C
ENST00000476466.1:n.185G>C
NM_001142805.1:c.333G>C NP_001136277.1:p.Ser111=
NM_001142806.1:c.-13G>C NP_001136278.1:n.-13G>C
NM_005629.3:c.333G>C NP_005620.1:p.Ser111=
NM_005629.4:c.333G>C MANE Select NP_005620.1:p.Ser111=
NM_001142805.2:c.333G>C NP_001136277.1:p.Ser111=
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