Canonical Allele Identifier: CA1138540380
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

gnomAD v3: X-153688517-A-C
gnomAD v4: X-153688517-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688517A>C , CM000685.2:g.153688517A>C GRCh38
NC_000023.10:g.152953972A>C , CM000685.1:g.152953972A>C GRCh37
NC_000023.9:g.152607166A>C NCBI36
NG_012016.1:g.5221A>C
NG_012016.2:g.5221A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.-58A>C (SLC6A8) MANE Select ENSP00000253122.5:n.-58A>C
ENST00000253122.9:c.-58A>C (SLC6A8) ENSP00000253122.5:n.-58A>C
ENST00000458354.5:c.-3+298T>G (PNCK) ENSP00000401542.1:n.-3+298T>G
ENST00000480693.1:n.64+298T>G (PNCK)
NM_001142805.1:c.-58A>C (SLC6A8) NP_001136277.1:n.-58A>C
NM_005629.3:c.-58A>C (SLC6A8) NP_005620.1:n.-58A>C
NM_005629.4:c.-58A>C (SLC6A8) MANE Select NP_005620.1:n.-58A>C
NM_001142805.2:c.-58A>C (SLC6A8) NP_001136277.1:n.-58A>C
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