Canonical Allele Identifier: CA16609137
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 386861
ClinVar RCV Id: RCV000441339 RCV001455905
dbSNP Id: rs1057522627
gnomAD v4: X-153688604-C-T
MyVariant Identifiers: chrX:g.152954059C>T (hg19) chrX:g.153688604C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688604C>T , CM000685.2:g.153688604C>T GRCh38
NC_000023.10:g.152954059C>T , CM000685.1:g.152954059C>T GRCh37
NC_000023.9:g.152607253C>T NCBI36
NG_012016.1:g.5308C>T
NG_012016.2:g.5308C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.30C>T (SLC6A8) MANE Select ENSP00000253122.5:p.Ile10=
ENST00000253122.9:c.30C>T (SLC6A8) ENSP00000253122.5:p.Ile10=
ENST00000458354.5:c.-3+211G>A (PNCK) ENSP00000401542.1:n.-3+211G>A
ENST00000480693.1:n.64+211G>A (PNCK)
NM_001142805.1:c.30C>T (SLC6A8) NP_001136277.1:p.Ile10=
NM_005629.3:c.30C>T (SLC6A8) NP_005620.1:p.Ile10=
NM_005629.4:c.30C>T (SLC6A8) MANE Select NP_005620.1:p.Ile10=
NM_001142805.2:c.30C>T (SLC6A8) NP_001136277.1:p.Ile10=
Search 100 bp 5'
Search 100 bp 3'