Canonical Allele Identifier: CA415086748

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959624C>A (hg19) ; chrX:g.153694169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694169C>A , CM000685.2:g.153694169C>A	GRCh38
NC_000023.10:g.152959624C>A , CM000685.1:g.152959624C>A	GRCh37
NC_000023.9:g.152612818C>A	NCBI36
NG_012016.1:g.10873C>A
NG_012016.2:g.10873C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1294C>A MANE Select	ENSP00000253122.5:p.Leu432Ile
ENST00000253122.9:c.1294C>A	ENSP00000253122.5:p.Leu432Ile
ENST00000413787.1:c.258-35C>A	ENSP00000400463.1:n.258-35C>A
ENST00000430077.6:c.949C>A	ENSP00000403041.2:p.Leu317Ile
ENST00000442457.1:c.348C>A
ENST00000485324.1:n.1439C>A
NM_001142805.1:c.1264C>A	NP_001136277.1:p.Leu422Ile
NM_001142806.1:c.949C>A	NP_001136278.1:p.Leu317Ile
NM_005629.3:c.1294C>A	NP_005620.1:p.Leu432Ile
NM_005629.4:c.1294C>A MANE Select	NP_005620.1:p.Leu432Ile
NM_001142805.2:c.1264C>A	NP_001136277.1:p.Leu422Ile