Canonical Allele Identifier: CA415076220

Gene: SLC6A8 PNCK

Linked Data

• ClinVar Variation Id: 2534598
• ClinVar RCV Id: RCV003242438
• gnomAD v4: X-153688668-G-A
• MyVariant Identifiers: chrX:g.152954123G>A (hg19) ; chrX:g.153688668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688668G>A , CM000685.2:g.153688668G>A	GRCh38
NC_000023.10:g.152954123G>A , CM000685.1:g.152954123G>A	GRCh37
NC_000023.9:g.152607317G>A	NCBI36
NG_012016.1:g.5372G>A
NG_012016.2:g.5372G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.94G>A (SLC6A8) MANE Select	ENSP00000253122.5:p.Ala32Thr
ENST00000253122.9:c.94G>A (SLC6A8)	ENSP00000253122.5:p.Ala32Thr
ENST00000458354.5:c.-3+147C>T (PNCK)	ENSP00000401542.1:n.-3+147C>T
ENST00000480693.1:n.64+147C>T (PNCK)
NM_001142805.1:c.94G>A (SLC6A8)	NP_001136277.1:p.Ala32Thr
NM_005629.3:c.94G>A (SLC6A8)	NP_005620.1:p.Ala32Thr
NM_005629.4:c.94G>A (SLC6A8) MANE Select	NP_005620.1:p.Ala32Thr
NM_001142805.2:c.94G>A (SLC6A8)	NP_001136277.1:p.Ala32Thr