Canonical Allele Identifier: CA2466435781
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

dbSNP Id: rs2091435135
gnomAD v4: X-153688530-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688530G>C , CM000685.2:g.153688530G>C GRCh38
NC_000023.10:g.152953985G>C , CM000685.1:g.152953985G>C GRCh37
NC_000023.9:g.152607179G>C NCBI36
NG_012016.1:g.5234G>C
NG_012016.2:g.5234G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.-45G>C (SLC6A8) MANE Select ENSP00000253122.5:n.-45G>C
ENST00000253122.9:c.-45G>C (SLC6A8) ENSP00000253122.5:n.-45G>C
ENST00000458354.5:c.-3+285C>G (PNCK) ENSP00000401542.1:n.-3+285C>G
ENST00000480693.1:n.64+285C>G (PNCK)
NM_001142805.1:c.-45G>C (SLC6A8) NP_001136277.1:n.-45G>C
NM_005629.3:c.-45G>C (SLC6A8) NP_005620.1:n.-45G>C
NM_005629.4:c.-45G>C (SLC6A8) MANE Select NP_005620.1:n.-45G>C
NM_001142805.2:c.-45G>C (SLC6A8) NP_001136277.1:n.-45G>C
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