Canonical Allele Identifier: CA519344903

Gene: SLC6A8

Linked Data

• dbSNP Id: rs1557045409
• gnomAD v4: X-153694204-G-A
• MyVariant Identifiers: chrX:g.152959659G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694204G>A , CM000685.2:g.153694204G>A	GRCh38
NC_000023.10:g.152959659G>A , CM000685.1:g.152959659G>A	GRCh37
NC_000023.9:g.152612853G>A	NCBI36
NG_012016.1:g.10908G>A
NG_012016.2:g.10908G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1329G>A MANE Select	ENSP00000253122.5:p.Arg443=
ENST00000253122.9:c.1329G>A	ENSP00000253122.5:p.Arg443=
ENST00000413787.1:c.258G>A	ENSP00000400463.1:p.Arg86=
ENST00000430077.6:c.984G>A	ENSP00000403041.2:p.Arg328=
ENST00000442457.1:c.383G>A
ENST00000485324.1:n.1474G>A
NM_001142805.1:c.1299G>A	NP_001136277.1:p.Arg433=
NM_001142806.1:c.984G>A	NP_001136278.1:p.Arg328=
NM_005629.3:c.1329G>A	NP_005620.1:p.Arg443=
NM_005629.4:c.1329G>A MANE Select	NP_005620.1:p.Arg443=
NM_001142805.2:c.1299G>A	NP_001136277.1:p.Arg433=