Canonical Allele Identifier: CA415086729

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 2161659
• ClinVar RCV Id: RCV003089607
• dbSNP Id: rs782551106
• gnomAD v4: X-153694160-C-T
• MyVariant Identifiers: chrX:g.152959615C>T (hg19) ; chrX:g.153694160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694160C>T , CM000685.2:g.153694160C>T	GRCh38
NC_000023.10:g.152959615C>T , CM000685.1:g.152959615C>T	GRCh37
NC_000023.9:g.152612809C>T	NCBI36
NG_012016.1:g.10864C>T
NG_012016.2:g.10864C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1285C>T MANE Select	ENSP00000253122.5:p.Leu429Phe
ENST00000253122.9:c.1285C>T	ENSP00000253122.5:p.Leu429Phe
ENST00000413787.1:c.258-44C>T	ENSP00000400463.1:n.258-44C>T
ENST00000430077.6:c.940C>T	ENSP00000403041.2:p.Leu314Phe
ENST00000442457.1:c.339C>T
ENST00000457723.1:c.262C>T	ENSP00000394742.1:p.Leu88Phe
ENST00000485324.1:n.1430C>T
NM_001142805.1:c.1255C>T	NP_001136277.1:p.Leu419Phe
NM_001142806.1:c.940C>T	NP_001136278.1:p.Leu314Phe
NM_005629.3:c.1285C>T	NP_005620.1:p.Leu429Phe
NM_005629.4:c.1285C>T MANE Select	NP_005620.1:p.Leu429Phe
NM_001142805.2:c.1255C>T	NP_001136277.1:p.Leu419Phe