Canonical Allele Identifier: CA10549183
Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2874181
ClinVar RCV Id: RCV003623981
dbSNP Id: rs781916894
ExAC: X:152955900 G / T
gnomAD v2: X-152955900-G-T
gnomAD v4: X-153690445-G-T
MyVariant Identifiers: chrX:g.152955900G>T (hg19) chrX:g.153690445G>T (hg38)
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Genomic Alleles

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

Transcript Alleles

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