Canonical Allele Identifier: CA415076802

Gene: SLC6A8 PNCK

Linked Data

• MyVariant Identifiers: chrX:g.152954222T>G (hg19) ; chrX:g.153688767T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153688767T>G , CM000685.2:g.153688767T>G	GRCh38
NC_000023.10:g.152954222T>G , CM000685.1:g.152954222T>G	GRCh37
NC_000023.9:g.152607416T>G	NCBI36
NG_012016.1:g.5471T>G
NG_012016.2:g.5471T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.193T>G (SLC6A8) MANE Select	ENSP00000253122.5:p.Cys65Gly
ENST00000253122.9:c.193T>G (SLC6A8)	ENSP00000253122.5:p.Cys65Gly
ENST00000458354.5:c.-3+48A>C (PNCK)	ENSP00000401542.1:n.-3+48A>C
ENST00000476466.1:n.45T>G (SLC6A8)
ENST00000480693.1:n.64+48A>C (PNCK)
NM_001142805.1:c.193T>G (SLC6A8)	NP_001136277.1:p.Cys65Gly
NM_005629.3:c.193T>G (SLC6A8)	NP_005620.1:p.Cys65Gly
NM_005629.4:c.193T>G (SLC6A8) MANE Select	NP_005620.1:p.Cys65Gly
NM_001142805.2:c.193T>G (SLC6A8)	NP_001136277.1:p.Cys65Gly