Canonical Allele Identifier: CA415086760

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959630C>A (hg19) ; chrX:g.153694175C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694175C>A , CM000685.2:g.153694175C>A	GRCh38
NC_000023.10:g.152959630C>A , CM000685.1:g.152959630C>A	GRCh37
NC_000023.9:g.152612824C>A	NCBI36
NG_012016.1:g.10879C>A
NG_012016.2:g.10879C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253122.10:c.1300C>A MANE Select	ENSP00000253122.5:p.Pro434Thr
ENST00000253122.9:c.1300C>A	ENSP00000253122.5:p.Pro434Thr
ENST00000413787.1:c.258-29C>A	ENSP00000400463.1:n.258-29C>A
ENST00000430077.6:c.955C>A	ENSP00000403041.2:p.Pro319Thr
ENST00000442457.1:c.354C>A
ENST00000485324.1:n.1445C>A
NM_001142805.1:c.1270C>A	NP_001136277.1:p.Pro424Thr
NM_001142806.1:c.955C>A	NP_001136278.1:p.Pro319Thr
NM_005629.3:c.1300C>A	NP_005620.1:p.Pro434Thr
NM_005629.4:c.1300C>A MANE Select	NP_005620.1:p.Pro434Thr
NM_001142805.2:c.1270C>A	NP_001136277.1:p.Pro424Thr