Canonical Allele Identifier: CA519344931

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1627871
• ClinVar RCV Id: RCV002123251
• dbSNP Id: rs2148364052
• gnomAD v4: X-153694234-C-G
• MyVariant Identifiers: chrX:g.152959689C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694234C>G , CM000685.2:g.153694234C>G	GRCh38
NC_000023.10:g.152959689C>G , CM000685.1:g.152959689C>G	GRCh37
NC_000023.9:g.152612883C>G	NCBI36
NG_012016.1:g.10938C>G
NG_012016.2:g.10938C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1359C>G MANE Select	ENSP00000253122.5:p.Leu453=
ENST00000253122.9:c.1359C>G	ENSP00000253122.5:p.Leu453=
ENST00000413787.1:c.288C>G	ENSP00000400463.1:p.Leu96=
ENST00000430077.6:c.1014C>G	ENSP00000403041.2:p.Leu338=
ENST00000442457.1:c.413C>G
ENST00000485324.1:n.1504C>G
NM_001142805.1:c.1329C>G	NP_001136277.1:p.Leu443=
NM_001142806.1:c.1014C>G	NP_001136278.1:p.Leu338=
NM_005629.3:c.1359C>G	NP_005620.1:p.Leu453=
NM_005629.4:c.1359C>G MANE Select	NP_005620.1:p.Leu453=
NM_001142805.2:c.1329C>G	NP_001136277.1:p.Leu443=