Canonical Allele Identifier: CA16608770

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 379400
• ClinVar RCV Id: RCV000418727
• dbSNP Id: rs1057520594
• gnomAD v4: X-153694013-G-A
• MyVariant Identifiers: chrX:g.152959468G>A (hg19) ; chrX:g.153694013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694013G>A , CM000685.2:g.153694013G>A	GRCh38
NC_000023.10:g.152959468G>A , CM000685.1:g.152959468G>A	GRCh37
NC_000023.9:g.152612662G>A	NCBI36
NG_012016.1:g.10717G>A
NG_012016.2:g.10717G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1250G>A MANE Select	ENSP00000253122.5:p.Ser417Asn
ENST00000253122.9:c.1250G>A	ENSP00000253122.5:p.Ser417Asn
ENST00000413787.1:c.258-191G>A	ENSP00000400463.1:n.258-191G>A
ENST00000430077.6:c.905G>A	ENSP00000403041.2:p.Ser302Asn
ENST00000442457.1:c.304G>A
ENST00000457723.1:c.234G>A	ENSP00000394742.1:p.Gln78=
ENST00000485324.1:n.1283G>A
NM_001142805.1:c.1220G>A	NP_001136277.1:p.Ser407Asn
NM_001142806.1:c.905G>A	NP_001136278.1:p.Ser302Asn
NM_005629.3:c.1250G>A	NP_005620.1:p.Ser417Asn
NM_005629.4:c.1250G>A MANE Select	NP_005620.1:p.Ser417Asn
NM_001142805.2:c.1220G>A	NP_001136277.1:p.Ser407Asn