Canonical Allele Identifier: CA2695037266

Gene: SLC6A8 PNCK

Linked Data

• ClinVar Variation Id: 2705901
• ClinVar RCV Id: RCV003512931
• gnomAD v4: X-153688855-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688855C>T , CM000685.2:g.153688855C>T	GRCh38
NC_000023.10:g.152954310C>T , CM000685.1:g.152954310C>T	GRCh37
NC_000023.9:g.152607504C>T	NCBI36
NG_012016.1:g.5559C>T
NG_012016.2:g.5559C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253122.10:c.262+19C>T (SLC6A8) MANE Select	ENSP00000253122.5:n.262+19C>T
ENST00000253122.9:c.262+19C>T (SLC6A8)	ENSP00000253122.5:n.262+19C>T
ENST00000458354.5:c.-43G>A (PNCK)	ENSP00000401542.1:n.-43G>A
ENST00000476466.1:n.114+19C>T (SLC6A8)
ENST00000480693.1:n.24G>A (PNCK)
NM_001142805.1:c.262+19C>T (SLC6A8)	NP_001136277.1:n.262+19C>T
NM_005629.3:c.262+19C>T (SLC6A8)	NP_005620.1:n.262+19C>T
NM_005629.4:c.262+19C>T (SLC6A8) MANE Select	NP_005620.1:n.262+19C>T
NM_001142805.2:c.262+19C>T (SLC6A8)	NP_001136277.1:n.262+19C>T