Canonical Allele Identifier: CA2579744099

Gene: SLC6A8 PNCK

Linked Data

• ClinVar Variation Id: 2855733
• ClinVar RCV Id: RCV003625937
• gnomAD v4: X-153688853-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688853G>C , CM000685.2:g.153688853G>C	GRCh38
NC_000023.10:g.152954308G>C , CM000685.1:g.152954308G>C	GRCh37
NC_000023.9:g.152607502G>C	NCBI36
NG_012016.1:g.5557G>C
NG_012016.2:g.5557G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.262+17G>C (SLC6A8) MANE Select	ENSP00000253122.5:n.262+17G>C
ENST00000253122.9:c.262+17G>C (SLC6A8)	ENSP00000253122.5:n.262+17G>C
ENST00000458354.5:c.-41C>G (PNCK)	ENSP00000401542.1:n.-41C>G
ENST00000476466.1:n.114+17G>C (SLC6A8)
ENST00000480693.1:n.26C>G (PNCK)
NM_001142805.1:c.262+17G>C (SLC6A8)	NP_001136277.1:n.262+17G>C
NM_005629.3:c.262+17G>C (SLC6A8)	NP_005620.1:n.262+17G>C
NM_005629.4:c.262+17G>C (SLC6A8) MANE Select	NP_005620.1:n.262+17G>C
NM_001142805.2:c.262+17G>C (SLC6A8)	NP_001136277.1:n.262+17G>C