Canonical Allele Identifier: CA2466435758

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs1319248979
• gnomAD v3: X-153688495-T-G
• gnomAD v4: X-153688495-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688495T>G , CM000685.2:g.153688495T>G	GRCh38
NC_000023.10:g.152953950T>G , CM000685.1:g.152953950T>G	GRCh37
NC_000023.9:g.152607144T>G	NCBI36
NG_012016.1:g.5199T>G
NG_012016.2:g.5199T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-80T>G (SLC6A8) MANE Select	ENSP00000253122.5:n.-80T>G
ENST00000253122.9:c.-80T>G (SLC6A8)	ENSP00000253122.5:n.-80T>G
ENST00000458354.5:c.-3+320A>C (PNCK)	ENSP00000401542.1:n.-3+320A>C
ENST00000480693.1:n.64+320A>C (PNCK)
NM_001142805.1:c.-80T>G (SLC6A8)	NP_001136277.1:n.-80T>G
NM_005629.3:c.-80T>G (SLC6A8)	NP_005620.1:n.-80T>G
NM_005629.4:c.-80T>G (SLC6A8) MANE Select	NP_005620.1:n.-80T>G
NM_001142805.2:c.-80T>G (SLC6A8)	NP_001136277.1:n.-80T>G