Canonical Allele Identifier: CA415075849

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs2148358287
• gnomAD v4: X-153688579-C-A
• MyVariant Identifiers: chrX:g.152954034C>A (hg19) ; chrX:g.153688579C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688579C>A , CM000685.2:g.153688579C>A	GRCh38
NC_000023.10:g.152954034C>A , CM000685.1:g.152954034C>A	GRCh37
NC_000023.9:g.152607228C>A	NCBI36
NG_012016.1:g.5283C>A
NG_012016.2:g.5283C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.5C>A (SLC6A8) MANE Select	ENSP00000253122.5:p.Ala2Glu
ENST00000253122.9:c.5C>A (SLC6A8)	ENSP00000253122.5:p.Ala2Glu
ENST00000458354.5:c.-3+236G>T (PNCK)	ENSP00000401542.1:n.-3+236G>T
ENST00000480693.1:n.64+236G>T (PNCK)
NM_001142805.1:c.5C>A (SLC6A8)	NP_001136277.1:p.Ala2Glu
NM_005629.3:c.5C>A (SLC6A8)	NP_005620.1:p.Ala2Glu
NM_005629.4:c.5C>A (SLC6A8) MANE Select	NP_005620.1:p.Ala2Glu
NM_001142805.2:c.5C>A (SLC6A8)	NP_001136277.1:p.Ala2Glu