Canonical Allele Identifier: CA415086764

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1017072
• ClinVar RCV Id: RCV001316165
• dbSNP Id: rs2091474324
• gnomAD v4: X-153694176-C-T
• COSMIC: COSM5476901
• MyVariant Identifiers: chrX:g.152959631C>T (hg19) ; chrX:g.153694176C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694176C>T , CM000685.2:g.153694176C>T	GRCh38
NC_000023.10:g.152959631C>T , CM000685.1:g.152959631C>T	GRCh37
NC_000023.9:g.152612825C>T	NCBI36
NG_012016.1:g.10880C>T
NG_012016.2:g.10880C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1301C>T MANE Select	ENSP00000253122.5:p.Pro434Leu
ENST00000253122.9:c.1301C>T	ENSP00000253122.5:p.Pro434Leu
ENST00000413787.1:c.258-28C>T	ENSP00000400463.1:n.258-28C>T
ENST00000430077.6:c.956C>T	ENSP00000403041.2:p.Pro319Leu
ENST00000442457.1:c.355C>T
ENST00000485324.1:n.1446C>T
NM_001142805.1:c.1271C>T	NP_001136277.1:p.Pro424Leu
NM_001142806.1:c.956C>T	NP_001136278.1:p.Pro319Leu
NM_005629.3:c.1301C>T	NP_005620.1:p.Pro434Leu
NM_005629.4:c.1301C>T MANE Select	NP_005620.1:p.Pro434Leu
NM_001142805.2:c.1271C>T	NP_001136277.1:p.Pro424Leu