Canonical Allele Identifier: CA415086590

Gene: SLC6A8

Linked Data

• dbSNP Id: rs1557045322
• gnomAD v2: X-152959452-C-A
• gnomAD v4: X-153693997-C-A
• MyVariant Identifiers: chrX:g.152959452C>A (hg19) ; chrX:g.153693997C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693997C>A , CM000685.2:g.153693997C>A	GRCh38
NC_000023.10:g.152959452C>A , CM000685.1:g.152959452C>A	GRCh37
NC_000023.9:g.152612646C>A	NCBI36
NG_012016.1:g.10701C>A
NG_012016.2:g.10701C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1234C>A MANE Select	ENSP00000253122.5:p.Leu412Met
ENST00000253122.9:c.1234C>A	ENSP00000253122.5:p.Leu412Met
ENST00000413787.1:c.258-207C>A	ENSP00000400463.1:n.258-207C>A
ENST00000430077.6:c.889C>A	ENSP00000403041.2:p.Leu297Met
ENST00000442457.1:c.288C>A
ENST00000457723.1:c.218C>A	ENSP00000394742.1:p.Ala73Asp
ENST00000485324.1:n.1267C>A
NM_001142805.1:c.1204C>A	NP_001136277.1:p.Leu402Met
NM_001142806.1:c.889C>A	NP_001136278.1:p.Leu297Met
NM_005629.3:c.1234C>A	NP_005620.1:p.Leu412Met
NM_005629.4:c.1234C>A MANE Select	NP_005620.1:p.Leu412Met
NM_001142805.2:c.1204C>A	NP_001136277.1:p.Leu402Met