Canonical Allele Identifier: CA415086293

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693943-A-G
• MyVariant Identifiers: chrX:g.152959398A>G (hg19) ; chrX:g.153693943A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693943A>G , CM000685.2:g.153693943A>G	GRCh38
NC_000023.10:g.152959398A>G , CM000685.1:g.152959398A>G	GRCh37
NC_000023.9:g.152612592A>G	NCBI36
NG_012016.1:g.10647A>G
NG_012016.2:g.10647A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1180A>G MANE Select	ENSP00000253122.5:p.Thr394Ala
ENST00000253122.9:c.1180A>G	ENSP00000253122.5:p.Thr394Ala
ENST00000413787.1:c.258-261A>G	ENSP00000400463.1:n.258-261A>G
ENST00000430077.6:c.835A>G	ENSP00000403041.2:p.Thr279Ala
ENST00000442457.1:c.234A>G
ENST00000457723.1:c.164A>G	ENSP00000394742.1:p.His55Arg
ENST00000467402.1:n.279A>G
ENST00000485324.1:n.1213A>G
NM_001142805.1:c.1150A>G	NP_001136277.1:p.Thr384Ala
NM_001142806.1:c.835A>G	NP_001136278.1:p.Thr279Ala
NM_005629.3:c.1180A>G	NP_005620.1:p.Thr394Ala
NM_005629.4:c.1180A>G MANE Select	NP_005620.1:p.Thr394Ala
NM_001142805.2:c.1150A>G	NP_001136277.1:p.Thr384Ala