Canonical Allele Identifier: CA16609138
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 392671
ClinVar RCV Id: RCV000433087 RCV002305486
dbSNP Id: rs1057524586
gnomAD v4: X-153688622-C-A
MyVariant Identifiers: chrX:g.152954077C>A (hg19) chrX:g.153688622C>A (hg38)
ERepo: CA16609138/MONDO:0010305/027
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688622C>A , CM000685.2:g.153688622C>A GRCh38
NC_000023.10:g.152954077C>A , CM000685.1:g.152954077C>A GRCh37
NC_000023.9:g.152607271C>A NCBI36
NG_012016.1:g.5326C>A
NG_012016.2:g.5326C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.48C>A (SLC6A8) MANE Select ENSP00000253122.5:p.Asp16Glu
ENST00000253122.9:c.48C>A (SLC6A8) ENSP00000253122.5:p.Asp16Glu
ENST00000458354.5:c.-3+193G>T (PNCK) ENSP00000401542.1:n.-3+193G>T
ENST00000480693.1:n.64+193G>T (PNCK)
NM_001142805.1:c.48C>A (SLC6A8) NP_001136277.1:p.Asp16Glu
NM_005629.3:c.48C>A (SLC6A8) NP_005620.1:p.Asp16Glu
NM_005629.4:c.48C>A (SLC6A8) MANE Select NP_005620.1:p.Asp16Glu
NM_001142805.2:c.48C>A (SLC6A8) NP_001136277.1:p.Asp16Glu
Search 100 bp 5'
Search 100 bp 3'