Canonical Allele Identifier: CA415086511

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1019897
• ClinVar RCV Id: RCV001319400 ; RCV003442845
• dbSNP Id: rs2091472678
• gnomAD v4: X-153693977-T-C
• MyVariant Identifiers: chrX:g.152959432T>C (hg19) ; chrX:g.153693977T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693977T>C , CM000685.2:g.153693977T>C	GRCh38
NC_000023.10:g.152959432T>C , CM000685.1:g.152959432T>C	GRCh37
NC_000023.9:g.152612626T>C	NCBI36
NG_012016.1:g.10681T>C
NG_012016.2:g.10681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1214T>C MANE Select	ENSP00000253122.5:p.Leu405Pro
ENST00000253122.9:c.1214T>C	ENSP00000253122.5:p.Leu405Pro
ENST00000413787.1:c.258-227T>C	ENSP00000400463.1:n.258-227T>C
ENST00000430077.6:c.869T>C	ENSP00000403041.2:p.Leu290Pro
ENST00000442457.1:c.268T>C
ENST00000457723.1:c.198T>C	ENSP00000394742.1:p.Pro66=
ENST00000485324.1:n.1247T>C
NM_001142805.1:c.1184T>C	NP_001136277.1:p.Leu395Pro
NM_001142806.1:c.869T>C	NP_001136278.1:p.Leu290Pro
NM_005629.3:c.1214T>C	NP_005620.1:p.Leu405Pro
NM_005629.4:c.1214T>C MANE Select	NP_005620.1:p.Leu405Pro
NM_001142805.2:c.1184T>C	NP_001136277.1:p.Leu395Pro