Canonical Allele Identifier: CA1138540411

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v3: X-153688552-C-G
• gnomAD v4: X-153688552-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688552C>G , CM000685.2:g.153688552C>G	GRCh38
NC_000023.10:g.152954007C>G , CM000685.1:g.152954007C>G	GRCh37
NC_000023.9:g.152607201C>G	NCBI36
NG_012016.1:g.5256C>G
NG_012016.2:g.5256C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-23C>G (SLC6A8) MANE Select	ENSP00000253122.5:n.-23C>G
ENST00000253122.9:c.-23C>G (SLC6A8)	ENSP00000253122.5:n.-23C>G
ENST00000458354.5:c.-3+263G>C (PNCK)	ENSP00000401542.1:n.-3+263G>C
ENST00000480693.1:n.64+263G>C (PNCK)
NM_001142805.1:c.-23C>G (SLC6A8)	NP_001136277.1:n.-23C>G
NM_005629.3:c.-23C>G (SLC6A8)	NP_005620.1:n.-23C>G
NM_005629.4:c.-23C>G (SLC6A8) MANE Select	NP_005620.1:n.-23C>G
NM_001142805.2:c.-23C>G (SLC6A8)	NP_001136277.1:n.-23C>G