Canonical Allele Identifier: CA519184867

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 2162741
• ClinVar RCV Id: RCV003070401
• gnomAD v4: X-153690446-C-T
• MyVariant Identifiers: chrX:g.152955901C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690446C>T , CM000685.2:g.153690446C>T	GRCh38
NC_000023.10:g.152955901C>T , CM000685.1:g.152955901C>T	GRCh37
NC_000023.9:g.152609095C>T	NCBI36
NG_012016.1:g.7150C>T
NG_012016.2:g.7150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.334C>T MANE Select	ENSP00000253122.5:p.Leu112=
ENST00000675713.1:n.88C>T
ENST00000253122.9:c.334C>T	ENSP00000253122.5:p.Leu112=
ENST00000430077.6:c.-12C>T	ENSP00000403041.2:n.-12C>T
ENST00000476466.1:n.186C>T
NM_001142805.1:c.334C>T	NP_001136277.1:p.Leu112=
NM_001142806.1:c.-12C>T	NP_001136278.1:n.-12C>T
NM_005629.3:c.334C>T	NP_005620.1:p.Leu112=
NM_005629.4:c.334C>T MANE Select	NP_005620.1:p.Leu112=
NM_001142805.2:c.334C>T	NP_001136277.1:p.Leu112=