Canonical Allele Identifier: CA10549150

Gene: SLC6A8 PNCK

Linked Data

• ClinVar Variation Id: 650071
• ClinVar RCV Id: RCV000805153 ; RCV001830746 ; RCV002534802
• dbSNP Id: rs782598816
• ExAC: X:152954118 C / T
• gnomAD v2: X-152954118-C-T
• gnomAD v3: X-153688663-C-T
• gnomAD v4: X-153688663-C-T
• MyVariant Identifiers: chrX:g.152954118C>T (hg19) ; chrX:g.153688663C>T (hg38)
• ERepo: CA10549150/MONDO:0010305/027

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688663C>T , CM000685.2:g.153688663C>T	GRCh38
NC_000023.10:g.152954118C>T , CM000685.1:g.152954118C>T	GRCh37
NC_000023.9:g.152607312C>T	NCBI36
NG_012016.1:g.5367C>T
NG_012016.2:g.5367C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.89C>T (SLC6A8) MANE Select	ENSP00000253122.5:p.Ala30Val
ENST00000253122.9:c.89C>T (SLC6A8)	ENSP00000253122.5:p.Ala30Val
ENST00000458354.5:c.-3+152G>A (PNCK)	ENSP00000401542.1:n.-3+152G>A
ENST00000480693.1:n.64+152G>A (PNCK)
NM_001142805.1:c.89C>T (SLC6A8)	NP_001136277.1:p.Ala30Val
NM_005629.3:c.89C>T (SLC6A8)	NP_005620.1:p.Ala30Val
NM_005629.4:c.89C>T (SLC6A8) MANE Select	NP_005620.1:p.Ala30Val
NM_001142805.2:c.89C>T (SLC6A8)	NP_001136277.1:p.Ala30Val