Canonical Allele Identifier: CA415087896

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694438G>A , CM000685.2:g.153694438G>A	GRCh38
NC_000023.10:g.152959893G>A , CM000685.1:g.152959893G>A	GRCh37
NC_000023.9:g.152613087G>A	NCBI36
NG_012016.1:g.11142G>A
NG_012016.2:g.11142G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.1487G>A MANE Select	NP_005620.1:p.Trp496Ter
ENST00000253122.10:c.1487G>A MANE Select	ENSP00000253122.5:p.Trp496Ter
NM_001142805.1:c.1457G>A	NP_001136277.1:p.Trp486Ter
NM_001142805.2:c.1457G>A	NP_001136277.1:p.Trp486Ter
NM_001142806.1:c.1142G>A	NP_001136278.1:p.Trp381Ter
NM_005629.3:c.1487G>A	NP_005620.1:p.Trp496Ter
ENST00000253122.9:c.1487G>A	ENSP00000253122.5:p.Trp496Ter
ENST00000413787.1:c.416G>A	ENSP00000400463.1:p.Trp139Ter
ENST00000430077.6:c.1142G>A	ENSP00000403041.2:p.Trp381Ter
ENST00000485324.1:n.1708G>A