Canonical Allele Identifier: CA415086749

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 2711156
• ClinVar RCV Id: RCV003513083
• gnomAD v4: X-153694169-C-G
• MyVariant Identifiers: chrX:g.152959624C>G (hg19) ; chrX:g.153694169C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694169C>G , CM000685.2:g.153694169C>G	GRCh38
NC_000023.10:g.152959624C>G , CM000685.1:g.152959624C>G	GRCh37
NC_000023.9:g.152612818C>G	NCBI36
NG_012016.1:g.10873C>G
NG_012016.2:g.10873C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1294C>G MANE Select	ENSP00000253122.5:p.Leu432Val
ENST00000253122.9:c.1294C>G	ENSP00000253122.5:p.Leu432Val
ENST00000413787.1:c.258-35C>G	ENSP00000400463.1:n.258-35C>G
ENST00000430077.6:c.949C>G	ENSP00000403041.2:p.Leu317Val
ENST00000442457.1:c.348C>G
ENST00000485324.1:n.1439C>G
NM_001142805.1:c.1264C>G	NP_001136277.1:p.Leu422Val
NM_001142806.1:c.949C>G	NP_001136278.1:p.Leu317Val
NM_005629.3:c.1294C>G	NP_005620.1:p.Leu432Val
NM_005629.4:c.1294C>G MANE Select	NP_005620.1:p.Leu432Val
NM_001142805.2:c.1264C>G	NP_001136277.1:p.Leu422Val