Canonical Allele Identifier: CA415086685

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959595T>A (hg19) ; chrX:g.153694140T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694140T>A , CM000685.2:g.153694140T>A	GRCh38
NC_000023.10:g.152959595T>A , CM000685.1:g.152959595T>A	GRCh37
NC_000023.9:g.152612789T>A	NCBI36
NG_012016.1:g.10844T>A
NG_012016.2:g.10844T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1265T>A MANE Select	ENSP00000253122.5:p.Val422Glu
ENST00000253122.9:c.1265T>A	ENSP00000253122.5:p.Val422Glu
ENST00000413787.1:c.258-64T>A	ENSP00000400463.1:n.258-64T>A
ENST00000430077.6:c.920T>A	ENSP00000403041.2:p.Val307Glu
ENST00000442457.1:c.319T>A
ENST00000457723.1:c.242T>A	ENSP00000394742.1:p.Val81Glu
ENST00000485324.1:n.1410T>A
NM_001142805.1:c.1235T>A	NP_001136277.1:p.Val412Glu
NM_001142806.1:c.920T>A	NP_001136278.1:p.Val307Glu
NM_005629.3:c.1265T>A	NP_005620.1:p.Val422Glu
NM_005629.4:c.1265T>A MANE Select	NP_005620.1:p.Val422Glu
NM_001142805.2:c.1235T>A	NP_001136277.1:p.Val412Glu