Canonical Allele Identifier: CA415075870

Gene: SLC6A8 PNCK

Linked Data

• dbSNP Id: rs1557043719
• gnomAD v2: X-152954042-A-G
• gnomAD v4: X-153688587-A-G
• MyVariant Identifiers: chrX:g.152954042A>G (hg19) ; chrX:g.153688587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688587A>G , CM000685.2:g.153688587A>G	GRCh38
NC_000023.10:g.152954042A>G , CM000685.1:g.152954042A>G	GRCh37
NC_000023.9:g.152607236A>G	NCBI36
NG_012016.1:g.5291A>G
NG_012016.2:g.5291A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.13A>G (SLC6A8) MANE Select	ENSP00000253122.5:p.Ser5Gly
ENST00000253122.9:c.13A>G (SLC6A8)	ENSP00000253122.5:p.Ser5Gly
ENST00000458354.5:c.-3+228T>C (PNCK)	ENSP00000401542.1:n.-3+228T>C
ENST00000480693.1:n.64+228T>C (PNCK)
NM_001142805.1:c.13A>G (SLC6A8)	NP_001136277.1:p.Ser5Gly
NM_005629.3:c.13A>G (SLC6A8)	NP_005620.1:p.Ser5Gly
NM_005629.4:c.13A>G (SLC6A8) MANE Select	NP_005620.1:p.Ser5Gly
NM_001142805.2:c.13A>G (SLC6A8)	NP_001136277.1:p.Ser5Gly