Canonical Allele Identifier: CA415086358

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 3066434
• ClinVar RCV Id: RCV003991438
• MyVariant Identifiers: chrX:g.152959408C>T (hg19) ; chrX:g.153693953C>T (hg38)
• ERepo: CA415086358/MONDO:0010305/027

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693953C>T , CM000685.2:g.153693953C>T	GRCh38
NC_000023.10:g.152959408C>T , CM000685.1:g.152959408C>T	GRCh37
NC_000023.9:g.152612602C>T	NCBI36
NG_012016.1:g.10657C>T
NG_012016.2:g.10657C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1190C>T MANE Select	ENSP00000253122.5:p.Pro397Leu
ENST00000253122.9:c.1190C>T	ENSP00000253122.5:p.Pro397Leu
ENST00000413787.1:c.258-251C>T	ENSP00000400463.1:n.258-251C>T
ENST00000430077.6:c.845C>T	ENSP00000403041.2:p.Pro282Leu
ENST00000442457.1:c.244C>T
ENST00000457723.1:c.174C>T	ENSP00000394742.1:p.Ala58=
ENST00000467402.1:n.289C>T
ENST00000485324.1:n.1223C>T
NM_001142805.1:c.1160C>T	NP_001136277.1:p.Pro387Leu
NM_001142806.1:c.845C>T	NP_001136278.1:p.Pro282Leu
NM_005629.3:c.1190C>T	NP_005620.1:p.Pro397Leu
NM_005629.4:c.1190C>T MANE Select	NP_005620.1:p.Pro397Leu
NM_001142805.2:c.1160C>T	NP_001136277.1:p.Pro387Leu