Canonical Allele Identifier: CA519344328
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.152954035G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688580G>C , CM000685.2:g.153688580G>C GRCh38
NC_000023.10:g.152954035G>C , CM000685.1:g.152954035G>C GRCh37
NC_000023.9:g.152607229G>C NCBI36
NG_012016.1:g.5284G>C
NG_012016.2:g.5284G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.6G>C (SLC6A8) MANE Select ENSP00000253122.5:p.Ala2=
ENST00000253122.9:c.6G>C (SLC6A8) ENSP00000253122.5:p.Ala2=
ENST00000458354.5:c.-3+235C>G (PNCK) ENSP00000401542.1:n.-3+235C>G
ENST00000480693.1:n.64+235C>G (PNCK)
NM_001142805.1:c.6G>C (SLC6A8) NP_001136277.1:p.Ala2=
NM_005629.3:c.6G>C (SLC6A8) NP_005620.1:p.Ala2=
NM_005629.4:c.6G>C (SLC6A8) MANE Select NP_005620.1:p.Ala2=
NM_001142805.2:c.6G>C (SLC6A8) NP_001136277.1:p.Ala2=
Search 100 bp 5'
Search 100 bp 3'