Canonical Allele Identifier: CA415076030
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1008693
ClinVar RCV Id: RCV001306071
dbSNP Id: rs2091436339
MyVariant Identifiers: chrX:g.152954080G>C (hg19) chrX:g.153688625G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688625G>C , CM000685.2:g.153688625G>C GRCh38
NC_000023.10:g.152954080G>C , CM000685.1:g.152954080G>C GRCh37
NC_000023.9:g.152607274G>C NCBI36
NG_012016.1:g.5329G>C
NG_012016.2:g.5329G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.51G>C (SLC6A8) MANE Select ENSP00000253122.5:p.Glu17Asp
ENST00000253122.9:c.51G>C (SLC6A8) ENSP00000253122.5:p.Glu17Asp
ENST00000458354.5:c.-3+190C>G (PNCK) ENSP00000401542.1:n.-3+190C>G
ENST00000480693.1:n.64+190C>G (PNCK)
NM_001142805.1:c.51G>C (SLC6A8) NP_001136277.1:p.Glu17Asp
NM_005629.3:c.51G>C (SLC6A8) NP_005620.1:p.Glu17Asp
NM_005629.4:c.51G>C (SLC6A8) MANE Select NP_005620.1:p.Glu17Asp
NM_001142805.2:c.51G>C (SLC6A8) NP_001136277.1:p.Glu17Asp
Search 100 bp 5'
Search 100 bp 3'