Canonical Allele Identifier: CA415077794

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152955916A>T (hg19) ; chrX:g.153690461A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690461A>T , CM000685.2:g.153690461A>T	GRCh38
NC_000023.10:g.152955916A>T , CM000685.1:g.152955916A>T	GRCh37
NC_000023.9:g.152609110A>T	NCBI36
NG_012016.1:g.7165A>T
NG_012016.2:g.7165A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.349A>T MANE Select	ENSP00000253122.5:p.Lys117Ter
ENST00000675713.1:n.103A>T
ENST00000253122.9:c.349A>T	ENSP00000253122.5:p.Lys117Ter
ENST00000430077.6:c.4A>T	ENSP00000403041.2:p.Lys2Ter
ENST00000476466.1:n.201A>T
NM_001142805.1:c.349A>T	NP_001136277.1:p.Lys117Ter
NM_001142806.1:c.4A>T	NP_001136278.1:p.Lys2Ter
NM_005629.3:c.349A>T	NP_005620.1:p.Lys117Ter
NM_005629.4:c.349A>T MANE Select	NP_005620.1:p.Lys117Ter
NM_001142805.2:c.349A>T	NP_001136277.1:p.Lys117Ter