Canonical Allele Identifier: CA415075876
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1187113
ClinVar RCV Id: RCV001546447
dbSNP Id: rs1557043724
gnomAD v2: X-152954044-C-A
gnomAD v4: X-153688589-C-A
MyVariant Identifiers: chrX:g.152954044C>A (hg19) chrX:g.153688589C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688589C>A , CM000685.2:g.153688589C>A GRCh38
NC_000023.10:g.152954044C>A , CM000685.1:g.152954044C>A GRCh37
NC_000023.9:g.152607238C>A NCBI36
NG_012016.1:g.5293C>A
NG_012016.2:g.5293C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.15C>A (SLC6A8) MANE Select ENSP00000253122.5:p.Ser5Arg
ENST00000253122.9:c.15C>A (SLC6A8) ENSP00000253122.5:p.Ser5Arg
ENST00000458354.5:c.-3+226G>T (PNCK) ENSP00000401542.1:n.-3+226G>T
ENST00000480693.1:n.64+226G>T (PNCK)
NM_001142805.1:c.15C>A (SLC6A8) NP_001136277.1:p.Ser5Arg
NM_005629.3:c.15C>A (SLC6A8) NP_005620.1:p.Ser5Arg
NM_005629.4:c.15C>A (SLC6A8) MANE Select NP_005620.1:p.Ser5Arg
NM_001142805.2:c.15C>A (SLC6A8) NP_001136277.1:p.Ser5Arg
Search 100 bp 5'
Search 100 bp 3'