Canonical Allele Identifier: CA2466438108

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693964C= , CM000685.2:g.153693964C=	GRCh38
NC_000023.10:g.152959419C= , CM000685.1:g.152959419C=	GRCh37
NC_000023.9:g.152612613C=	NCBI36
NG_012016.1:g.10668C=
NG_012016.2:g.10668C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1201C= MANE Select	ENSP00000253122.5:p.Leu401=
ENST00000253122.9:c.1201C=	ENSP00000253122.5:p.Leu401=
ENST00000413787.1:c.258-240C=	ENSP00000400463.1:n.258-240C=
ENST00000430077.6:c.856C=	ENSP00000403041.2:p.Leu286=
ENST00000442457.1:c.255C=
ENST00000457723.1:c.185C=	ENSP00000394742.1:p.Thr62=
ENST00000467402.1:n.300C=
ENST00000485324.1:n.1234C=
NM_001142805.1:c.1171C=	NP_001136277.1:p.Leu391=
NM_001142806.1:c.856C=	NP_001136278.1:p.Leu286=
NM_005629.3:c.1201C=	NP_005620.1:p.Leu401=
NM_005629.4:c.1201C= MANE Select	NP_005620.1:p.Leu401=
NM_001142805.2:c.1171C=	NP_001136277.1:p.Leu391=