Canonical Allele Identifier: CA415086679
Gene: SLC6A8 HGNC NCBI

Linked Data

ClinVar Variation Id: 427187
ClinVar RCV Id: RCV001851321
dbSNP Id: rs1085308011
MyVariant Identifiers: chrX:g.152959592G>A (hg19) chrX:g.153694137G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694137G>A , CM000685.2:g.153694137G>A GRCh38
NC_000023.10:g.152959592G>A , CM000685.1:g.152959592G>A GRCh37
NC_000023.9:g.152612786G>A NCBI36
NG_012016.1:g.10841G>A
NG_012016.2:g.10841G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000253122.10:c.1262G>A MANE Select ENSP00000253122.5:p.Gly421Asp
ENST00000253122.9:c.1262G>A ENSP00000253122.5:p.Gly421Asp
ENST00000413787.1:c.258-67G>A ENSP00000400463.1:n.258-67G>A
ENST00000430077.6:c.917G>A ENSP00000403041.2:p.Gly306Asp
ENST00000442457.1:c.316G>A
ENST00000457723.1:c.239G>A ENSP00000394742.1:p.Gly80Asp
ENST00000485324.1:n.1407G>A
NM_001142805.1:c.1232G>A NP_001136277.1:p.Gly411Asp
NM_001142806.1:c.917G>A NP_001136278.1:p.Gly306Asp
NM_005629.3:c.1262G>A NP_005620.1:p.Gly421Asp
NM_005629.4:c.1262G>A MANE Select NP_005620.1:p.Gly421Asp
NM_001142805.2:c.1232G>A NP_001136277.1:p.Gly411Asp
Search 100 bp 5'
Search 100 bp 3'