Canonical Allele Identifier: CA415086616

Gene: SLC6A8

Linked Data

• MyVariant Identifiers: chrX:g.152959461C>A (hg19) ; chrX:g.153694006C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694006C>A , CM000685.2:g.153694006C>A	GRCh38
NC_000023.10:g.152959461C>A , CM000685.1:g.152959461C>A	GRCh37
NC_000023.9:g.152612655C>A	NCBI36
NG_012016.1:g.10710C>A
NG_012016.2:g.10710C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1243C>A MANE Select	ENSP00000253122.5:p.Leu415Ile
ENST00000253122.9:c.1243C>A	ENSP00000253122.5:p.Leu415Ile
ENST00000413787.1:c.258-198C>A	ENSP00000400463.1:n.258-198C>A
ENST00000430077.6:c.898C>A	ENSP00000403041.2:p.Leu300Ile
ENST00000442457.1:c.297C>A
ENST00000457723.1:c.227C>A	ENSP00000394742.1:p.Ser76Tyr
ENST00000485324.1:n.1276C>A
NM_001142805.1:c.1213C>A	NP_001136277.1:p.Leu405Ile
NM_001142806.1:c.898C>A	NP_001136278.1:p.Leu300Ile
NM_005629.3:c.1243C>A	NP_005620.1:p.Leu415Ile
NM_005629.4:c.1243C>A MANE Select	NP_005620.1:p.Leu415Ile
NM_001142805.2:c.1213C>A	NP_001136277.1:p.Leu405Ile