Canonical Allele Identifier: CA10549443

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 436771
• ClinVar RCV Id: RCV000499651 ; RCV000640937 ; RCV001092998 ; RCV001834620 ; RCV002323868
• dbSNP Id: rs374163604
• ExAC: X:152959380 G / A
• gnomAD v2: X-152959380-G-A
• gnomAD v3: X-153693925-G-A
• gnomAD v4: X-153693925-G-A
• MyVariant Identifiers: chrX:g.152959380G>A (hg19) ; chrX:g.153693925G>A (hg38)
• ERepo: CA10549443/MONDO:0010305/027

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693925G>A , CM000685.2:g.153693925G>A	GRCh38
NC_000023.10:g.152959380G>A , CM000685.1:g.152959380G>A	GRCh37
NC_000023.9:g.152612574G>A	NCBI36
NG_012016.1:g.10629G>A
NG_012016.2:g.10629G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1162G>A MANE Select	ENSP00000253122.5:p.Ala388Thr
ENST00000253122.9:c.1162G>A	ENSP00000253122.5:p.Ala388Thr
ENST00000413787.1:c.258-279G>A	ENSP00000400463.1:n.258-279G>A
ENST00000430077.6:c.817G>A	ENSP00000403041.2:p.Ala273Thr
ENST00000442457.1:c.216G>A
ENST00000457723.1:c.146G>A	ENSP00000394742.1:p.Arg49His
ENST00000467402.1:n.261G>A
ENST00000485324.1:n.1195G>A
NM_001142805.1:c.1132G>A	NP_001136277.1:p.Ala378Thr
NM_001142806.1:c.817G>A	NP_001136278.1:p.Ala273Thr
NM_005629.3:c.1162G>A	NP_005620.1:p.Ala388Thr
NM_005629.4:c.1162G>A MANE Select	NP_005620.1:p.Ala388Thr
NM_001142805.2:c.1132G>A	NP_001136277.1:p.Ala378Thr