Canonical Allele Identifier: CA2466438127

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694016A= , CM000685.2:g.153694016A=	GRCh38
NC_000023.10:g.152959471A= , CM000685.1:g.152959471A=	GRCh37
NC_000023.9:g.152612665A=	NCBI36
NG_012016.1:g.10720A=
NG_012016.2:g.10720A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1253A= MANE Select	ENSP00000253122.5:p.Gln418=
ENST00000253122.9:c.1253A=	ENSP00000253122.5:p.Gln418=
ENST00000413787.1:c.258-188A=	ENSP00000400463.1:n.258-188A=
ENST00000430077.6:c.908A=	ENSP00000403041.2:p.Gln303=
ENST00000442457.1:c.307A=
ENST00000457723.1:c.237A=	ENSP00000394742.1:p.Pro79=
ENST00000485324.1:n.1286A=
NM_001142805.1:c.1223A=	NP_001136277.1:p.Gln408=
NM_001142806.1:c.908A=	NP_001136278.1:p.Gln303=
NM_005629.3:c.1253A=	NP_005620.1:p.Gln418=
NM_005629.4:c.1253A= MANE Select	NP_005620.1:p.Gln418=
NM_001142805.2:c.1223A=	NP_001136277.1:p.Gln408=