Canonical Allele Identifier: CA415086326

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693948-G-T
• MyVariant Identifiers: chrX:g.152959403G>T (hg19) ; chrX:g.153693948G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693948G>T , CM000685.2:g.153693948G>T	GRCh38
NC_000023.10:g.152959403G>T , CM000685.1:g.152959403G>T	GRCh37
NC_000023.9:g.152612597G>T	NCBI36
NG_012016.1:g.10652G>T
NG_012016.2:g.10652G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1185G>T MANE Select	ENSP00000253122.5:p.Leu395=
ENST00000253122.9:c.1185G>T	ENSP00000253122.5:p.Leu395=
ENST00000413787.1:c.258-256G>T	ENSP00000400463.1:n.258-256G>T
ENST00000430077.6:c.840G>T	ENSP00000403041.2:p.Leu280=
ENST00000442457.1:c.239G>T
ENST00000457723.1:c.169G>T	ENSP00000394742.1:p.Asp57Tyr
ENST00000467402.1:n.284G>T
ENST00000485324.1:n.1218G>T
NM_001142805.1:c.1155G>T	NP_001136277.1:p.Leu385=
NM_001142806.1:c.840G>T	NP_001136278.1:p.Leu280=
NM_005629.3:c.1185G>T	NP_005620.1:p.Leu395=
NM_005629.4:c.1185G>T MANE Select	NP_005620.1:p.Leu395=
NM_001142805.2:c.1155G>T	NP_001136277.1:p.Leu385=