Canonical Allele Identifier: CA415086302

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693944-C-A
• MyVariant Identifiers: chrX:g.152959399C>A (hg19) ; chrX:g.153693944C>A (hg38)
• ERepo: CA415086302/MONDO:0010305/027

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693944C>A , CM000685.2:g.153693944C>A	GRCh38
NC_000023.10:g.152959399C>A , CM000685.1:g.152959399C>A	GRCh37
NC_000023.9:g.152612593C>A	NCBI36
NG_012016.1:g.10648C>A
NG_012016.2:g.10648C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1181C>A MANE Select	ENSP00000253122.5:p.Thr394Lys
ENST00000253122.9:c.1181C>A	ENSP00000253122.5:p.Thr394Lys
ENST00000413787.1:c.258-260C>A	ENSP00000400463.1:n.258-260C>A
ENST00000430077.6:c.836C>A	ENSP00000403041.2:p.Thr279Lys
ENST00000442457.1:c.235C>A
ENST00000457723.1:c.165C>A	ENSP00000394742.1:p.His55Gln
ENST00000467402.1:n.280C>A
ENST00000485324.1:n.1214C>A
NM_001142805.1:c.1151C>A	NP_001136277.1:p.Thr384Lys
NM_001142806.1:c.836C>A	NP_001136278.1:p.Thr279Lys
NM_005629.3:c.1181C>A	NP_005620.1:p.Thr394Lys
NM_005629.4:c.1181C>A MANE Select	NP_005620.1:p.Thr394Lys
NM_001142805.2:c.1151C>A	NP_001136277.1:p.Thr384Lys