Canonical Allele Identifier: CA415086264

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693938-C-T
• MyVariant Identifiers: chrX:g.152959393C>T (hg19) ; chrX:g.153693938C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693938C>T , CM000685.2:g.153693938C>T	GRCh38
NC_000023.10:g.152959393C>T , CM000685.1:g.152959393C>T	GRCh37
NC_000023.9:g.152612587C>T	NCBI36
NG_012016.1:g.10642C>T
NG_012016.2:g.10642C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1175C>T MANE Select	ENSP00000253122.5:p.Ala392Val
ENST00000253122.9:c.1175C>T	ENSP00000253122.5:p.Ala392Val
ENST00000413787.1:c.258-266C>T	ENSP00000400463.1:n.258-266C>T
ENST00000430077.6:c.830C>T	ENSP00000403041.2:p.Ala277Val
ENST00000442457.1:c.229C>T
ENST00000457723.1:c.159C>T	ENSP00000394742.1:p.Gly53=
ENST00000467402.1:n.274C>T
ENST00000485324.1:n.1208C>T
NM_001142805.1:c.1145C>T	NP_001136277.1:p.Ala382Val
NM_001142806.1:c.830C>T	NP_001136278.1:p.Ala277Val
NM_005629.3:c.1175C>T	NP_005620.1:p.Ala392Val
NM_005629.4:c.1175C>T MANE Select	NP_005620.1:p.Ala392Val
NM_001142805.2:c.1145C>T	NP_001136277.1:p.Ala382Val