Canonical Allele Identifier: CA519344343

Gene: SLC6A8 PNCK

Linked Data

• ClinVar Variation Id: 2005702
• ClinVar RCV Id: RCV002825416
• gnomAD v4: X-153688592-C-T
• MyVariant Identifiers: chrX:g.152954047C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688592C>T , CM000685.2:g.153688592C>T	GRCh38
NC_000023.10:g.152954047C>T , CM000685.1:g.152954047C>T	GRCh37
NC_000023.9:g.152607241C>T	NCBI36
NG_012016.1:g.5296C>T
NG_012016.2:g.5296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.18C>T (SLC6A8) MANE Select	ENSP00000253122.5:p.Ala6=
ENST00000253122.9:c.18C>T (SLC6A8)	ENSP00000253122.5:p.Ala6=
ENST00000458354.5:c.-3+223G>A (PNCK)	ENSP00000401542.1:n.-3+223G>A
ENST00000480693.1:n.64+223G>A (PNCK)
NM_001142805.1:c.18C>T (SLC6A8)	NP_001136277.1:p.Ala6=
NM_005629.3:c.18C>T (SLC6A8)	NP_005620.1:p.Ala6=
NM_005629.4:c.18C>T (SLC6A8) MANE Select	NP_005620.1:p.Ala6=
NM_001142805.2:c.18C>T (SLC6A8)	NP_001136277.1:p.Ala6=