Canonical Allele Identifier: CA415077990

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153690487-C-A
• MyVariant Identifiers: chrX:g.152955942C>A (hg19) ; chrX:g.153690487C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690487C>A , CM000685.2:g.153690487C>A	GRCh38
NC_000023.10:g.152955942C>A , CM000685.1:g.152955942C>A	GRCh37
NC_000023.9:g.152609136C>A	NCBI36
NG_012016.1:g.7191C>A
NG_012016.2:g.7191C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.375C>A MANE Select	ENSP00000253122.5:p.Asn125Lys
ENST00000675713.1:n.129C>A
ENST00000253122.9:c.375C>A	ENSP00000253122.5:p.Asn125Lys
ENST00000430077.6:c.30C>A	ENSP00000403041.2:p.Asn10Lys
ENST00000476466.1:n.227C>A
NM_001142805.1:c.375C>A	NP_001136277.1:p.Asn125Lys
NM_001142806.1:c.30C>A	NP_001136278.1:p.Asn10Lys
NM_005629.3:c.375C>A	NP_005620.1:p.Asn125Lys
NM_005629.4:c.375C>A MANE Select	NP_005620.1:p.Asn125Lys
NM_001142805.2:c.375C>A	NP_001136277.1:p.Asn125Lys