Canonical Allele Identifier: CA2695037294
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

gnomAD v4: X-153688860-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688860C>A , CM000685.2:g.153688860C>A GRCh38
NC_000023.10:g.152954315C>A , CM000685.1:g.152954315C>A GRCh37
NC_000023.9:g.152607509C>A NCBI36
NG_012016.1:g.5564C>A
NG_012016.2:g.5564C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000253122.10:c.262+24C>A (SLC6A8) MANE Select ENSP00000253122.5:n.262+24C>A
ENST00000253122.9:c.262+24C>A (SLC6A8) ENSP00000253122.5:n.262+24C>A
ENST00000458354.5:c.-48G>T (PNCK) ENSP00000401542.1:n.-48G>T
ENST00000476466.1:n.114+24C>A (SLC6A8)
ENST00000480693.1:n.19G>T (PNCK)
NM_001142805.1:c.262+24C>A (SLC6A8) NP_001136277.1:n.262+24C>A
NM_005629.3:c.262+24C>A (SLC6A8) NP_005620.1:n.262+24C>A
NM_005629.4:c.262+24C>A (SLC6A8) MANE Select NP_005620.1:n.262+24C>A
NM_001142805.2:c.262+24C>A (SLC6A8) NP_001136277.1:n.262+24C>A
Search 100 bp 5'
Search 100 bp 3'