Canonical Allele Identifier: CA519344581

Gene: SLC6A8 PNCK

Linked Data

• ClinVar Variation Id: 2144254
• ClinVar RCV Id: RCV003068303
• dbSNP Id: rs1557043844
• gnomAD v2: X-152954179-G-T
• gnomAD v4: X-153688724-G-T
• MyVariant Identifiers: chrX:g.152954179G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688724G>T , CM000685.2:g.153688724G>T	GRCh38
NC_000023.10:g.152954179G>T , CM000685.1:g.152954179G>T	GRCh37
NC_000023.9:g.152607373G>T	NCBI36
NG_012016.1:g.5428G>T
NG_012016.2:g.5428G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.150G>T (SLC6A8) MANE Select	ENSP00000253122.5:p.Pro50=
ENST00000253122.9:c.150G>T (SLC6A8)	ENSP00000253122.5:p.Pro50=
ENST00000458354.5:c.-3+91C>A (PNCK)	ENSP00000401542.1:n.-3+91C>A
ENST00000476466.1:n.2G>T (SLC6A8)
ENST00000480693.1:n.64+91C>A (PNCK)
NM_001142805.1:c.150G>T (SLC6A8)	NP_001136277.1:p.Pro50=
NM_005629.3:c.150G>T (SLC6A8)	NP_005620.1:p.Pro50=
NM_005629.4:c.150G>T (SLC6A8) MANE Select	NP_005620.1:p.Pro50=
NM_001142805.2:c.150G>T (SLC6A8)	NP_001136277.1:p.Pro50=