Canonical Allele Identifier: CA415086075

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693908-C-A
• MyVariant Identifiers: chrX:g.152959363C>A (hg19) ; chrX:g.153693908C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693908C>A , CM000685.2:g.153693908C>A	GRCh38
NC_000023.10:g.152959363C>A , CM000685.1:g.152959363C>A	GRCh37
NC_000023.9:g.152612557C>A	NCBI36
NG_012016.1:g.10612C>A
NG_012016.2:g.10612C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1145C>A MANE Select	ENSP00000253122.5:p.Pro382Gln
ENST00000253122.9:c.1145C>A	ENSP00000253122.5:p.Pro382Gln
ENST00000413787.1:c.258-296C>A	ENSP00000400463.1:n.258-296C>A
ENST00000430077.6:c.800C>A	ENSP00000403041.2:p.Pro267Gln
ENST00000442457.1:c.199C>A
ENST00000457723.1:c.129C>A	ENSP00000394742.1:p.Ala43=
ENST00000467402.1:n.244C>A
ENST00000485324.1:n.1178C>A
NM_001142805.1:c.1115C>A	NP_001136277.1:p.Pro372Gln
NM_001142806.1:c.800C>A	NP_001136278.1:p.Pro267Gln
NM_005629.3:c.1145C>A	NP_005620.1:p.Pro382Gln
NM_005629.4:c.1145C>A MANE Select	NP_005620.1:p.Pro382Gln
NM_001142805.2:c.1115C>A	NP_001136277.1:p.Pro372Gln