Canonical Allele Identifier: CA415076352
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 2522769
ClinVar RCV Id: RCV003265460
dbSNP Id: rs1368093500
gnomAD v3: X-153688698-A-G
gnomAD v4: X-153688698-A-G
MyVariant Identifiers: chrX:g.152954153A>G (hg19) chrX:g.153688698A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688698A>G , CM000685.2:g.153688698A>G GRCh38
NC_000023.10:g.152954153A>G , CM000685.1:g.152954153A>G GRCh37
NC_000023.9:g.152607347A>G NCBI36
NG_012016.1:g.5402A>G
NG_012016.2:g.5402A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.124A>G (SLC6A8) MANE Select ENSP00000253122.5:p.Thr42Ala
ENST00000253122.9:c.124A>G (SLC6A8) ENSP00000253122.5:p.Thr42Ala
ENST00000458354.5:c.-3+117T>C (PNCK) ENSP00000401542.1:n.-3+117T>C
ENST00000480693.1:n.64+117T>C (PNCK)
NM_001142805.1:c.124A>G (SLC6A8) NP_001136277.1:p.Thr42Ala
NM_005629.3:c.124A>G (SLC6A8) NP_005620.1:p.Thr42Ala
NM_005629.4:c.124A>G (SLC6A8) MANE Select NP_005620.1:p.Thr42Ala
NM_001142805.2:c.124A>G (SLC6A8) NP_001136277.1:p.Thr42Ala
Search 100 bp 5'
Search 100 bp 3'