Canonical Allele Identifier: CA415076740

Gene: SLC6A8 PNCK

Linked Data

• gnomAD v4: X-153688758-A-T
• MyVariant Identifiers: chrX:g.152954213A>T (hg19) ; chrX:g.153688758A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688758A>T , CM000685.2:g.153688758A>T	GRCh38
NC_000023.10:g.152954213A>T , CM000685.1:g.152954213A>T	GRCh37
NC_000023.9:g.152607407A>T	NCBI36
NG_012016.1:g.5462A>T
NG_012016.2:g.5462A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253122.10:c.184A>T (SLC6A8) MANE Select	ENSP00000253122.5:p.Ile62Phe
ENST00000253122.9:c.184A>T (SLC6A8)	ENSP00000253122.5:p.Ile62Phe
ENST00000458354.5:c.-3+57T>A (PNCK)	ENSP00000401542.1:n.-3+57T>A
ENST00000476466.1:n.36A>T (SLC6A8)
ENST00000480693.1:n.64+57T>A (PNCK)
NM_001142805.1:c.184A>T (SLC6A8)	NP_001136277.1:p.Ile62Phe
NM_005629.3:c.184A>T (SLC6A8)	NP_005620.1:p.Ile62Phe
NM_005629.4:c.184A>T (SLC6A8) MANE Select	NP_005620.1:p.Ile62Phe
NM_001142805.2:c.184A>T (SLC6A8)	NP_001136277.1:p.Ile62Phe