Canonical Allele Identifier: CA2740040909

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694314C>A , CM000685.2:g.153694314C>A	GRCh38
NC_000023.10:g.152959769C>A , CM000685.1:g.152959769C>A	GRCh37
NC_000023.9:g.152612963C>A	NCBI36
NG_012016.1:g.11018C>A
NG_012016.2:g.11018C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1393-30C>A MANE Select	ENSP00000253122.5:n.1393-30C>A
ENST00000253122.9:c.1393-30C>A	ENSP00000253122.5:n.1393-30C>A
ENST00000413787.1:c.322-30C>A	ENSP00000400463.1:n.322-30C>A
ENST00000430077.6:c.1048-30C>A	ENSP00000403041.2:n.1048-30C>A
ENST00000442457.1:c.447-30C>A
ENST00000485324.1:n.1584C>A
NM_001142805.1:c.1363-30C>A	NP_001136277.1:n.1363-30C>A
NM_001142806.1:c.1048-30C>A	NP_001136278.1:n.1048-30C>A
NM_005629.3:c.1393-30C>A	NP_005620.1:n.1393-30C>A
NM_005629.4:c.1393-30C>A MANE Select	NP_005620.1:n.1393-30C>A
NM_001142805.2:c.1363-30C>A	NP_001136277.1:n.1363-30C>A