Canonical Allele Identifier: CA10549440

Gene: SLC6A8

Linked Data

• dbSNP Id: rs781833324
• ExAC: X:152959368 C / T
• MyVariant Identifiers: chrX:g.152959368C>T (hg19) ; chrX:g.153693913C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693913C>T , CM000685.2:g.153693913C>T	GRCh38
NC_000023.10:g.152959368C>T , CM000685.1:g.152959368C>T	GRCh37
NC_000023.9:g.152612562C>T	NCBI36
NG_012016.1:g.10617C>T
NG_012016.2:g.10617C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1150C>T MANE Select	ENSP00000253122.5:p.Leu384=
ENST00000253122.9:c.1150C>T	ENSP00000253122.5:p.Leu384=
ENST00000413787.1:c.258-291C>T	ENSP00000400463.1:n.258-291C>T
ENST00000430077.6:c.805C>T	ENSP00000403041.2:p.Leu269=
ENST00000442457.1:c.204C>T
ENST00000457723.1:c.134C>T	ENSP00000394742.1:p.Pro45Leu
ENST00000467402.1:n.249C>T
ENST00000485324.1:n.1183C>T
NM_001142805.1:c.1120C>T	NP_001136277.1:p.Leu374=
NM_001142806.1:c.805C>T	NP_001136278.1:p.Leu269=
NM_005629.3:c.1150C>T	NP_005620.1:p.Leu384=
NM_005629.4:c.1150C>T MANE Select	NP_005620.1:p.Leu384=
NM_001142805.2:c.1120C>T	NP_001136277.1:p.Leu374=