Canonical Allele Identifier: CA415086877

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959664T>A (hg19) ; chrX:g.153694209T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694209T>A , CM000685.2:g.153694209T>A	GRCh38
NC_000023.10:g.152959664T>A , CM000685.1:g.152959664T>A	GRCh37
NC_000023.9:g.152612858T>A	NCBI36
NG_012016.1:g.10913T>A
NG_012016.2:g.10913T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1334T>A MANE Select	ENSP00000253122.5:p.Ile445Asn
ENST00000253122.9:c.1334T>A	ENSP00000253122.5:p.Ile445Asn
ENST00000413787.1:c.263T>A	ENSP00000400463.1:p.Ile88Asn
ENST00000430077.6:c.989T>A	ENSP00000403041.2:p.Ile330Asn
ENST00000442457.1:c.388T>A
ENST00000485324.1:n.1479T>A
NM_001142805.1:c.1304T>A	NP_001136277.1:p.Ile435Asn
NM_001142806.1:c.989T>A	NP_001136278.1:p.Ile330Asn
NM_005629.3:c.1334T>A	NP_005620.1:p.Ile445Asn
NM_005629.4:c.1334T>A MANE Select	NP_005620.1:p.Ile445Asn
NM_001142805.2:c.1304T>A	NP_001136277.1:p.Ile435Asn