Canonical Allele Identifier: CA873270642

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs384573
• gnomAD v4: X-153688570-A-C
• MyVariant Identifiers: chrX:g.152954025A>C (hg19) ; chrX:g.153688570A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688570A>C , CM000685.2:g.153688570A>C	GRCh38
NC_000023.10:g.152954025A>C , CM000685.1:g.152954025A>C	GRCh37
NC_000023.9:g.152607219A>C	NCBI36
NG_012016.1:g.5274A>C
NG_012016.2:g.5274A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.-5A>C (SLC6A8) MANE Select	ENSP00000253122.5:n.-5A>C
ENST00000253122.9:c.-5A>C (SLC6A8)	ENSP00000253122.5:n.-5A>C
ENST00000458354.5:c.-3+245T>G (PNCK)	ENSP00000401542.1:n.-3+245T>G
ENST00000480693.1:n.64+245T>G (PNCK)
NM_001142805.1:c.-5A>C (SLC6A8)	NP_001136277.1:n.-5A>C
NM_005629.3:c.-5A>C (SLC6A8)	NP_005620.1:n.-5A>C
NM_005629.4:c.-5A>C (SLC6A8) MANE Select	NP_005620.1:n.-5A>C
NM_001142805.2:c.-5A>C (SLC6A8)	NP_001136277.1:n.-5A>C