Canonical Allele Identifier: CA645287826

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs1557043662
• gnomAD v2: X-152954000-C-A
• gnomAD v4: X-153688545-C-A
• MyVariant Identifiers: chrX:g.152954000C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688545C>A , CM000685.2:g.153688545C>A	GRCh38
NC_000023.10:g.152954000C>A , CM000685.1:g.152954000C>A	GRCh37
NC_000023.9:g.152607194C>A	NCBI36
NG_012016.1:g.5249C>A
NG_012016.2:g.5249C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-30C>A (SLC6A8) MANE Select	ENSP00000253122.5:n.-30C>A
ENST00000253122.9:c.-30C>A (SLC6A8)	ENSP00000253122.5:n.-30C>A
ENST00000458354.5:c.-3+270G>T (PNCK)	ENSP00000401542.1:n.-3+270G>T
ENST00000480693.1:n.64+270G>T (PNCK)
NM_001142805.1:c.-30C>A (SLC6A8)	NP_001136277.1:n.-30C>A
NM_005629.3:c.-30C>A (SLC6A8)	NP_005620.1:n.-30C>A
NM_005629.4:c.-30C>A (SLC6A8) MANE Select	NP_005620.1:n.-30C>A
NM_001142805.2:c.-30C>A (SLC6A8)	NP_001136277.1:n.-30C>A