Canonical Allele Identifier: CA415076214
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 572616
ClinVar RCV Id: RCV000694042 RCV000842126
dbSNP Id: rs868950793
gnomAD v2: X-152954121-C-T
gnomAD v3: X-153688666-C-T
gnomAD v4: X-153688666-C-T
COSMIC: COSM5958176
MyVariant Identifiers: chrX:g.152954121C>T (hg19) chrX:g.153688666C>T (hg38)
ERepo: CA415076214/MONDO:0010305/027
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688666C>T , CM000685.2:g.153688666C>T GRCh38
NC_000023.10:g.152954121C>T , CM000685.1:g.152954121C>T GRCh37
NC_000023.9:g.152607315C>T NCBI36
NG_012016.1:g.5370C>T
NG_012016.2:g.5370C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.92C>T (SLC6A8) MANE Select ENSP00000253122.5:p.Pro31Leu
ENST00000253122.9:c.92C>T (SLC6A8) ENSP00000253122.5:p.Pro31Leu
ENST00000458354.5:c.-3+149G>A (PNCK) ENSP00000401542.1:n.-3+149G>A
ENST00000480693.1:n.64+149G>A (PNCK)
NM_001142805.1:c.92C>T (SLC6A8) NP_001136277.1:p.Pro31Leu
NM_005629.3:c.92C>T (SLC6A8) NP_005620.1:p.Pro31Leu
NM_005629.4:c.92C>T (SLC6A8) MANE Select NP_005620.1:p.Pro31Leu
NM_001142805.2:c.92C>T (SLC6A8) NP_001136277.1:p.Pro31Leu
Search 100 bp 5'
Search 100 bp 3'