Canonical Allele Identifier: CA10549204
Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 465147
ClinVar RCV Id: RCV000713356 RCV001088436
dbSNP Id: rs149024147
ExAC: X:152956908 G / A
gnomAD v2: X-152956908-G-A
gnomAD v3: X-153691453-G-A
gnomAD v4: X-153691453-G-A
MyVariant Identifiers: chrX:g.152956908G>A (hg19) chrX:g.153691453G>A (hg38)
ERepo: CA10549204/MONDO:0010305/027
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153691453G>A , CM000685.2:g.153691453G>A GRCh38
NC_000023.10:g.152956908G>A , CM000685.1:g.152956908G>A GRCh37
NC_000023.9:g.152610102G>A NCBI36
NG_012016.1:g.8157G>A
NG_012016.2:g.8157G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.544G>A MANE Select ENSP00000253122.5:p.Val182Met
ENST00000675713.1:n.298G>A
ENST00000253122.9:c.544G>A ENSP00000253122.5:p.Val182Met
ENST00000430077.6:c.199G>A ENSP00000403041.2:p.Val67Met
ENST00000466243.1:n.336G>A
ENST00000467402.1:n.91G>A
NM_001142805.1:c.544G>A NP_001136277.1:p.Val182Met
NM_001142806.1:c.199G>A NP_001136278.1:p.Val67Met
NM_005629.3:c.544G>A NP_005620.1:p.Val182Met
NM_005629.4:c.544G>A MANE Select NP_005620.1:p.Val182Met
NM_001142805.2:c.544G>A NP_001136277.1:p.Val182Met
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