Canonical Allele Identifier: CA415076514

Gene: SLC6A8 PNCK

Linked Data

• ClinVar Variation Id: 2727804
• ClinVar RCV Id: RCV003513429
• gnomAD v4: X-153688723-C-A
• MyVariant Identifiers: chrX:g.152954178C>A (hg19) ; chrX:g.153688723C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688723C>A , CM000685.2:g.153688723C>A	GRCh38
NC_000023.10:g.152954178C>A , CM000685.1:g.152954178C>A	GRCh37
NC_000023.9:g.152607372C>A	NCBI36
NG_012016.1:g.5427C>A
NG_012016.2:g.5427C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.149C>A (SLC6A8) MANE Select	ENSP00000253122.5:p.Pro50Gln
ENST00000253122.9:c.149C>A (SLC6A8)	ENSP00000253122.5:p.Pro50Gln
ENST00000458354.5:c.-3+92G>T (PNCK)	ENSP00000401542.1:n.-3+92G>T
ENST00000476466.1:n.1C>A (SLC6A8)
ENST00000480693.1:n.64+92G>T (PNCK)
NM_001142805.1:c.149C>A (SLC6A8)	NP_001136277.1:p.Pro50Gln
NM_005629.3:c.149C>A (SLC6A8)	NP_005620.1:p.Pro50Gln
NM_005629.4:c.149C>A (SLC6A8) MANE Select	NP_005620.1:p.Pro50Gln
NM_001142805.2:c.149C>A (SLC6A8)	NP_001136277.1:p.Pro50Gln