Canonical Allele Identifier: CA415086352

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153693952-C-T
• MyVariant Identifiers: chrX:g.152959407C>T (hg19) ; chrX:g.153693952C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693952C>T , CM000685.2:g.153693952C>T	GRCh38
NC_000023.10:g.152959407C>T , CM000685.1:g.152959407C>T	GRCh37
NC_000023.9:g.152612601C>T	NCBI36
NG_012016.1:g.10656C>T
NG_012016.2:g.10656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1189C>T MANE Select	ENSP00000253122.5:p.Pro397Ser
ENST00000253122.9:c.1189C>T	ENSP00000253122.5:p.Pro397Ser
ENST00000413787.1:c.258-252C>T	ENSP00000400463.1:n.258-252C>T
ENST00000430077.6:c.844C>T	ENSP00000403041.2:p.Pro282Ser
ENST00000442457.1:c.243C>T
ENST00000457723.1:c.173C>T	ENSP00000394742.1:p.Ala58Val
ENST00000467402.1:n.288C>T
ENST00000485324.1:n.1222C>T
NM_001142805.1:c.1159C>T	NP_001136277.1:p.Pro387Ser
NM_001142806.1:c.844C>T	NP_001136278.1:p.Pro282Ser
NM_005629.3:c.1189C>T	NP_005620.1:p.Pro397Ser
NM_005629.4:c.1189C>T MANE Select	NP_005620.1:p.Pro397Ser
NM_001142805.2:c.1159C>T	NP_001136277.1:p.Pro387Ser