Canonical Allele Identifier: CA415077876

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153690472-C-A
• MyVariant Identifiers: chrX:g.152955927C>A (hg19) ; chrX:g.153690472C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690472C>A , CM000685.2:g.153690472C>A	GRCh38
NC_000023.10:g.152955927C>A , CM000685.1:g.152955927C>A	GRCh37
NC_000023.9:g.152609121C>A	NCBI36
NG_012016.1:g.7176C>A
NG_012016.2:g.7176C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.360C>A MANE Select	ENSP00000253122.5:p.Ser120Arg
ENST00000675713.1:n.114C>A
ENST00000253122.9:c.360C>A	ENSP00000253122.5:p.Ser120Arg
ENST00000430077.6:c.15C>A	ENSP00000403041.2:p.Ser5Arg
ENST00000476466.1:n.212C>A
NM_001142805.1:c.360C>A	NP_001136277.1:p.Ser120Arg
NM_001142806.1:c.15C>A	NP_001136278.1:p.Ser5Arg
NM_005629.3:c.360C>A	NP_005620.1:p.Ser120Arg
NM_005629.4:c.360C>A MANE Select	NP_005620.1:p.Ser120Arg
NM_001142805.2:c.360C>A	NP_001136277.1:p.Ser120Arg