Canonical Allele Identifier: CA415086632

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153694012-A-G
• MyVariant Identifiers: chrX:g.152959467A>G (hg19) ; chrX:g.153694012A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694012A>G , CM000685.2:g.153694012A>G	GRCh38
NC_000023.10:g.152959467A>G , CM000685.1:g.152959467A>G	GRCh37
NC_000023.9:g.152612661A>G	NCBI36
NG_012016.1:g.10716A>G
NG_012016.2:g.10716A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1249A>G MANE Select	ENSP00000253122.5:p.Ser417Gly
ENST00000253122.9:c.1249A>G	ENSP00000253122.5:p.Ser417Gly
ENST00000413787.1:c.258-192A>G	ENSP00000400463.1:n.258-192A>G
ENST00000430077.6:c.904A>G	ENSP00000403041.2:p.Ser302Gly
ENST00000442457.1:c.303A>G
ENST00000457723.1:c.233A>G	ENSP00000394742.1:p.Gln78Arg
ENST00000485324.1:n.1282A>G
NM_001142805.1:c.1219A>G	NP_001136277.1:p.Ser407Gly
NM_001142806.1:c.904A>G	NP_001136278.1:p.Ser302Gly
NM_005629.3:c.1249A>G	NP_005620.1:p.Ser417Gly
NM_005629.4:c.1249A>G MANE Select	NP_005620.1:p.Ser417Gly
NM_001142805.2:c.1219A>G	NP_001136277.1:p.Ser407Gly