Canonical Allele Identifier: CA415076503
Gene: SLC6A8 HGNC NCBI
PNCK HGNC NCBI

Linked Data

ClinVar Variation Id: 1436501
ClinVar RCV Id: RCV002002122
dbSNP Id: rs1557043838
gnomAD v2: X-152954175-T-C
gnomAD v4: X-153688720-T-C
MyVariant Identifiers: chrX:g.152954175T>C (hg19) chrX:g.153688720T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688720T>C , CM000685.2:g.153688720T>C GRCh38
NC_000023.10:g.152954175T>C , CM000685.1:g.152954175T>C GRCh37
NC_000023.9:g.152607369T>C NCBI36
NG_012016.1:g.5424T>C
NG_012016.2:g.5424T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.146T>C (SLC6A8) MANE Select ENSP00000253122.5:p.Val49Ala
ENST00000253122.9:c.146T>C (SLC6A8) ENSP00000253122.5:p.Val49Ala
ENST00000458354.5:c.-3+95A>G (PNCK) ENSP00000401542.1:n.-3+95A>G
ENST00000480693.1:n.64+95A>G (PNCK)
NM_001142805.1:c.146T>C (SLC6A8) NP_001136277.1:p.Val49Ala
NM_005629.3:c.146T>C (SLC6A8) NP_005620.1:p.Val49Ala
NM_005629.4:c.146T>C (SLC6A8) MANE Select NP_005620.1:p.Val49Ala
NM_001142805.2:c.146T>C (SLC6A8) NP_001136277.1:p.Val49Ala
Search 100 bp 5'
Search 100 bp 3'