Canonical Allele Identifier: CA415075853
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2571803
ClinVar RCV Id: RCV003313512
dbSNP Id: rs2091435790
gnomAD v3: X-153688581-A-G
gnomAD v4: X-153688581-A-G
MyVariant Identifiers: chrX:g.152954036A>G (hg19) chrX:g.153688581A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688581A>G , CM000685.2:g.153688581A>G GRCh38
NC_000023.10:g.152954036A>G , CM000685.1:g.152954036A>G GRCh37
NC_000023.9:g.152607230A>G NCBI36
NG_012016.1:g.5285A>G
NG_012016.2:g.5285A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.7A>G (SLC6A8) MANE Select ENSP00000253122.5:p.Lys3Glu
ENST00000253122.9:c.7A>G (SLC6A8) ENSP00000253122.5:p.Lys3Glu
ENST00000458354.5:c.-3+234T>C (PNCK) ENSP00000401542.1:n.-3+234T>C
ENST00000480693.1:n.64+234T>C (PNCK)
NM_001142805.1:c.7A>G (SLC6A8) NP_001136277.1:p.Lys3Glu
NM_005629.3:c.7A>G (SLC6A8) NP_005620.1:p.Lys3Glu
NM_005629.4:c.7A>G (SLC6A8) MANE Select NP_005620.1:p.Lys3Glu
NM_001142805.2:c.7A>G (SLC6A8) NP_001136277.1:p.Lys3Glu
Search 100 bp 5'
Search 100 bp 3'