Canonical Allele Identifier: CA2466438122

Gene: SLC6A8

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1243C= MANE Select	ENSP00000253122.5:p.Leu415=
ENST00000253122.9:c.1243C=	ENSP00000253122.5:p.Leu415=
ENST00000413787.1:c.258-198C=	ENSP00000400463.1:n.258-198C=
ENST00000430077.6:c.898C=	ENSP00000403041.2:p.Leu300=
ENST00000442457.1:c.297C=
ENST00000457723.1:c.227C=	ENSP00000394742.1:p.Ser76=
ENST00000485324.1:n.1276C=
NM_001142805.1:c.1213C=	NP_001136277.1:p.Leu405=
NM_001142806.1:c.898C=	NP_001136278.1:p.Leu300=
NM_005629.3:c.1243C=	NP_005620.1:p.Leu415=
NM_005629.4:c.1243C= MANE Select	NP_005620.1:p.Leu415=
NM_001142805.2:c.1213C=	NP_001136277.1:p.Leu405=