Canonical Allele Identifier: CA1138540361

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs1348625501
• gnomAD v3: X-153688483-G-T
• gnomAD v4: X-153688483-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688483G>T , CM000685.2:g.153688483G>T	GRCh38
NC_000023.10:g.152953938G>T , CM000685.1:g.152953938G>T	GRCh37
NC_000023.9:g.152607132G>T	NCBI36
NG_012016.1:g.5187G>T
NG_012016.2:g.5187G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-92G>T (SLC6A8) MANE Select	ENSP00000253122.5:n.-92G>T
ENST00000253122.9:c.-92G>T (SLC6A8)	ENSP00000253122.5:n.-92G>T
ENST00000458354.5:c.-3+332C>A (PNCK)	ENSP00000401542.1:n.-3+332C>A
ENST00000480693.1:n.64+332C>A (PNCK)
NM_001142805.1:c.-92G>T (SLC6A8)	NP_001136277.1:n.-92G>T
NM_005629.3:c.-92G>T (SLC6A8)	NP_005620.1:n.-92G>T
NM_005629.4:c.-92G>T (SLC6A8) MANE Select	NP_005620.1:n.-92G>T
NM_001142805.2:c.-92G>T (SLC6A8)	NP_001136277.1:n.-92G>T