Canonical Allele Identifier: CA155263
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 130355
ClinVar RCV Id: RCV000118393 RCV000223997 RCV000601677
dbSNP Id: rs384573
ExAC: X:152954025 A / G
gnomAD v2: X-152954025-A-G
gnomAD v3: X-153688570-A-G
gnomAD v4: X-153688570-A-G
MyVariant Identifiers: chrX:g.152954025A>G (hg19) chrX:g.153688570A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688570A>G , CM000685.2:g.153688570A>G GRCh38
NC_000023.10:g.152954025A>G , CM000685.1:g.152954025A>G GRCh37
NC_000023.9:g.152607219A>G NCBI36
NG_012016.1:g.5274A>G
NG_012016.2:g.5274A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000253122.10:c.-5A>G (SLC6A8) MANE Select ENSP00000253122.5:n.-5A>G
ENST00000253122.9:c.-5A>G (SLC6A8) ENSP00000253122.5:n.-5A>G
ENST00000458354.5:c.-3+245T>C (PNCK) ENSP00000401542.1:n.-3+245T>C
ENST00000480693.1:n.64+245T>C (PNCK)
NM_001142805.1:c.-5A>G (SLC6A8) NP_001136277.1:n.-5A>G
NM_005629.3:c.-5A>G (SLC6A8) NP_005620.1:n.-5A>G
NM_005629.4:c.-5A>G (SLC6A8) MANE Select NP_005620.1:n.-5A>G
NM_001142805.2:c.-5A>G (SLC6A8) NP_001136277.1:n.-5A>G
Search 100 bp 5'
Search 100 bp 3'