Canonical Allele Identifier: CA2466435750
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

dbSNP Id: rs2091434734
gnomAD v4: X-153688484-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688484G>A , CM000685.2:g.153688484G>A GRCh38
NC_000023.10:g.152953939G>A , CM000685.1:g.152953939G>A GRCh37
NC_000023.9:g.152607133G>A NCBI36
NG_012016.1:g.5188G>A
NG_012016.2:g.5188G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.-91G>A (SLC6A8) MANE Select ENSP00000253122.5:n.-91G>A
ENST00000253122.9:c.-91G>A (SLC6A8) ENSP00000253122.5:n.-91G>A
ENST00000458354.5:c.-3+331C>T (PNCK) ENSP00000401542.1:n.-3+331C>T
ENST00000480693.1:n.64+331C>T (PNCK)
NM_001142805.1:c.-91G>A (SLC6A8) NP_001136277.1:n.-91G>A
NM_005629.3:c.-91G>A (SLC6A8) NP_005620.1:n.-91G>A
NM_005629.4:c.-91G>A (SLC6A8) MANE Select NP_005620.1:n.-91G>A
NM_001142805.2:c.-91G>A (SLC6A8) NP_001136277.1:n.-91G>A
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