Canonical Allele Identifier: CA415086795

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153694191-T-A
• MyVariant Identifiers: chrX:g.152959646T>A (hg19) ; chrX:g.153694191T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694191T>A , CM000685.2:g.153694191T>A	GRCh38
NC_000023.10:g.152959646T>A , CM000685.1:g.152959646T>A	GRCh37
NC_000023.9:g.152612840T>A	NCBI36
NG_012016.1:g.10895T>A
NG_012016.2:g.10895T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1316T>A MANE Select	ENSP00000253122.5:p.Phe439Tyr
ENST00000253122.9:c.1316T>A	ENSP00000253122.5:p.Phe439Tyr
ENST00000413787.1:c.258-13T>A	ENSP00000400463.1:n.258-13T>A
ENST00000430077.6:c.971T>A	ENSP00000403041.2:p.Phe324Tyr
ENST00000442457.1:c.370T>A
ENST00000485324.1:n.1461T>A
NM_001142805.1:c.1286T>A	NP_001136277.1:p.Phe429Tyr
NM_001142806.1:c.971T>A	NP_001136278.1:p.Phe324Tyr
NM_005629.3:c.1316T>A	NP_005620.1:p.Phe439Tyr
NM_005629.4:c.1316T>A MANE Select	NP_005620.1:p.Phe439Tyr
NM_001142805.2:c.1286T>A	NP_001136277.1:p.Phe429Tyr