Canonical Allele Identifier: CA415086720

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153694155-C-G
• MyVariant Identifiers: chrX:g.152959610C>G (hg19) ; chrX:g.153694155C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694155C>G , CM000685.2:g.153694155C>G	GRCh38
NC_000023.10:g.152959610C>G , CM000685.1:g.152959610C>G	GRCh37
NC_000023.9:g.152612804C>G	NCBI36
NG_012016.1:g.10859C>G
NG_012016.2:g.10859C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1280C>G MANE Select	ENSP00000253122.5:p.Thr427Ser
ENST00000253122.9:c.1280C>G	ENSP00000253122.5:p.Thr427Ser
ENST00000413787.1:c.258-49C>G	ENSP00000400463.1:n.258-49C>G
ENST00000430077.6:c.935C>G	ENSP00000403041.2:p.Thr312Ser
ENST00000442457.1:c.334C>G
ENST00000457723.1:c.257C>G	ENSP00000394742.1:p.Thr86Ser
ENST00000485324.1:n.1425C>G
NM_001142805.1:c.1250C>G	NP_001136277.1:p.Thr417Ser
NM_001142806.1:c.935C>G	NP_001136278.1:p.Thr312Ser
NM_005629.3:c.1280C>G	NP_005620.1:p.Thr427Ser
NM_005629.4:c.1280C>G MANE Select	NP_005620.1:p.Thr427Ser
NM_001142805.2:c.1250C>G	NP_001136277.1:p.Thr417Ser