Canonical Allele Identifier: CA2466438234

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694232C= , CM000685.2:g.153694232C=	GRCh38
NC_000023.10:g.152959687C= , CM000685.1:g.152959687C=	GRCh37
NC_000023.9:g.152612881C=	NCBI36
NG_012016.1:g.10936C=
NG_012016.2:g.10936C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1357C= MANE Select	ENSP00000253122.5:p.Leu453=
ENST00000253122.9:c.1357C=	ENSP00000253122.5:p.Leu453=
ENST00000413787.1:c.286C=	ENSP00000400463.1:p.Leu96=
ENST00000430077.6:c.1012C=	ENSP00000403041.2:p.Leu338=
ENST00000442457.1:c.411C=
ENST00000485324.1:n.1502C=
NM_001142805.1:c.1327C=	NP_001136277.1:p.Leu443=
NM_001142806.1:c.1012C=	NP_001136278.1:p.Leu338=
NM_005629.3:c.1357C=	NP_005620.1:p.Leu453=
NM_005629.4:c.1357C= MANE Select	NP_005620.1:p.Leu453=
NM_001142805.2:c.1327C=	NP_001136277.1:p.Leu443=