Canonical Allele Identifier: CA10549156
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

dbSNP Id: rs781975330
ExAC: X:152954166 G / A
gnomAD v2: X-152954166-G-A
gnomAD v3: X-153688711-G-A
gnomAD v4: X-153688711-G-A
MyVariant Identifiers: chrX:g.152954166G>A (hg19) chrX:g.153688711G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688711G>A , CM000685.2:g.153688711G>A GRCh38
NC_000023.10:g.152954166G>A , CM000685.1:g.152954166G>A GRCh37
NC_000023.9:g.152607360G>A NCBI36
NG_012016.1:g.5415G>A
NG_012016.2:g.5415G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.137G>A (SLC6A8) MANE Select ENSP00000253122.5:p.Arg46His
ENST00000253122.9:c.137G>A (SLC6A8) ENSP00000253122.5:p.Arg46His
ENST00000458354.5:c.-3+104C>T (PNCK) ENSP00000401542.1:n.-3+104C>T
ENST00000480693.1:n.64+104C>T (PNCK)
NM_001142805.1:c.137G>A (SLC6A8) NP_001136277.1:p.Arg46His
NM_005629.3:c.137G>A (SLC6A8) NP_005620.1:p.Arg46His
NM_005629.4:c.137G>A (SLC6A8) MANE Select NP_005620.1:p.Arg46His
NM_001142805.2:c.137G>A (SLC6A8) NP_001136277.1:p.Arg46His
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Search 100 bp 3'