Canonical Allele Identifier: CA2466435943
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688877C= , CM000685.2:g.153688877C= GRCh38
NC_000023.10:g.152954332C= , CM000685.1:g.152954332C= GRCh37
NC_000023.9:g.152607526C= NCBI36
NG_012016.1:g.5581C=
NG_012016.2:g.5581C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.262+41C= (SLC6A8) MANE Select ENSP00000253122.5:n.262+41C=
ENST00000253122.9:c.262+41C= (SLC6A8) ENSP00000253122.5:n.262+41C=
ENST00000458354.5:c.-65G= (PNCK) ENSP00000401542.1:n.-65G=
ENST00000476466.1:n.114+41C= (SLC6A8)
ENST00000480693.1:n.2G= (PNCK)
NM_001142805.1:c.262+41C= (SLC6A8) NP_001136277.1:n.262+41C=
NM_005629.3:c.262+41C= (SLC6A8) NP_005620.1:n.262+41C=
NM_005629.4:c.262+41C= (SLC6A8) MANE Select NP_005620.1:n.262+41C=
NM_001142805.2:c.262+41C= (SLC6A8) NP_001136277.1:n.262+41C=
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