Canonical Allele Identifier: CA415086144

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959374T>A (hg19) ; chrX:g.153693919T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693919T>A , CM000685.2:g.153693919T>A	GRCh38
NC_000023.10:g.152959374T>A , CM000685.1:g.152959374T>A	GRCh37
NC_000023.9:g.152612568T>A	NCBI36
NG_012016.1:g.10623T>A
NG_012016.2:g.10623T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1156T>A MANE Select	ENSP00000253122.5:p.Phe386Ile
ENST00000253122.9:c.1156T>A	ENSP00000253122.5:p.Phe386Ile
ENST00000413787.1:c.258-285T>A	ENSP00000400463.1:n.258-285T>A
ENST00000430077.6:c.811T>A	ENSP00000403041.2:p.Phe271Ile
ENST00000442457.1:c.210T>A
ENST00000457723.1:c.140T>A	ENSP00000394742.1:p.Leu47His
ENST00000467402.1:n.255T>A
ENST00000485324.1:n.1189T>A
NM_001142805.1:c.1126T>A	NP_001136277.1:p.Phe376Ile
NM_001142806.1:c.811T>A	NP_001136278.1:p.Phe271Ile
NM_005629.3:c.1156T>A	NP_005620.1:p.Phe386Ile
NM_005629.4:c.1156T>A MANE Select	NP_005620.1:p.Phe386Ile
NM_001142805.2:c.1126T>A	NP_001136277.1:p.Phe376Ile