Canonical Allele Identifier: CA645287843
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

dbSNP Id: rs1158351366
gnomAD v2: X-152954024-G-A
gnomAD v3: X-153688569-G-A
gnomAD v4: X-153688569-G-A
MyVariant Identifiers: chrX:g.152954024G>A (hg19) chrX:g.153688569G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688569G>A , CM000685.2:g.153688569G>A GRCh38
NC_000023.10:g.152954024G>A , CM000685.1:g.152954024G>A GRCh37
NC_000023.9:g.152607218G>A NCBI36
NG_012016.1:g.5273G>A
NG_012016.2:g.5273G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.-6G>A (SLC6A8) MANE Select ENSP00000253122.5:n.-6G>A
ENST00000253122.9:c.-6G>A (SLC6A8) ENSP00000253122.5:n.-6G>A
ENST00000458354.5:c.-3+246C>T (PNCK) ENSP00000401542.1:n.-3+246C>T
ENST00000480693.1:n.64+246C>T (PNCK)
NM_001142805.1:c.-6G>A (SLC6A8) NP_001136277.1:n.-6G>A
NM_005629.3:c.-6G>A (SLC6A8) NP_005620.1:n.-6G>A
NM_005629.4:c.-6G>A (SLC6A8) MANE Select NP_005620.1:n.-6G>A
NM_001142805.2:c.-6G>A (SLC6A8) NP_001136277.1:n.-6G>A
Search 100 bp 5'
Search 100 bp 3'