Canonical Allele Identifier: CA415086369

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959410G>C (hg19) ; chrX:g.153693955G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693955G>C , CM000685.2:g.153693955G>C	GRCh38
NC_000023.10:g.152959410G>C , CM000685.1:g.152959410G>C	GRCh37
NC_000023.9:g.152612604G>C	NCBI36
NG_012016.1:g.10659G>C
NG_012016.2:g.10659G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1192G>C MANE Select	ENSP00000253122.5:p.Val398Leu
ENST00000253122.9:c.1192G>C	ENSP00000253122.5:p.Val398Leu
ENST00000413787.1:c.258-249G>C	ENSP00000400463.1:n.258-249G>C
ENST00000430077.6:c.847G>C	ENSP00000403041.2:p.Val283Leu
ENST00000442457.1:c.246G>C
ENST00000457723.1:c.176G>C	ENSP00000394742.1:p.Ser59Thr
ENST00000467402.1:n.291G>C
ENST00000485324.1:n.1225G>C
NM_001142805.1:c.1162G>C	NP_001136277.1:p.Val388Leu
NM_001142806.1:c.847G>C	NP_001136278.1:p.Val283Leu
NM_005629.3:c.1192G>C	NP_005620.1:p.Val398Leu
NM_005629.4:c.1192G>C MANE Select	NP_005620.1:p.Val398Leu
NM_001142805.2:c.1162G>C	NP_001136277.1:p.Val388Leu