Canonical Allele Identifier: CA415077482

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152955866T>A (hg19) ; chrX:g.153690411T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690411T>A , CM000685.2:g.153690411T>A	GRCh38
NC_000023.10:g.152955866T>A , CM000685.1:g.152955866T>A	GRCh37
NC_000023.9:g.152609060T>A	NCBI36
NG_012016.1:g.7115T>A
NG_012016.2:g.7115T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.299T>A MANE Select	ENSP00000253122.5:p.Val100Asp
ENST00000675713.1:n.53T>A
ENST00000253122.9:c.299T>A	ENSP00000253122.5:p.Val100Asp
ENST00000430077.6:c.-47T>A	ENSP00000403041.2:n.-47T>A
ENST00000476466.1:n.151T>A
NM_001142805.1:c.299T>A	NP_001136277.1:p.Val100Asp
NM_001142806.1:c.-47T>A	NP_001136278.1:n.-47T>A
NM_005629.3:c.299T>A	NP_005620.1:p.Val100Asp
NM_005629.4:c.299T>A MANE Select	NP_005620.1:p.Val100Asp
NM_001142805.2:c.299T>A	NP_001136277.1:p.Val100Asp