Canonical Allele Identifier: CA415084403

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693267G>A , CM000685.2:g.153693267G>A	GRCh38
NC_000023.10:g.152958722G>A , CM000685.1:g.152958722G>A	GRCh37
NC_000023.9:g.152611916G>A	NCBI36
NG_012016.1:g.9971G>A
NG_012016.2:g.9971G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.917G>A MANE Select	NP_005620.1:p.Trp306Ter
ENST00000253122.10:c.917G>A MANE Select	ENSP00000253122.5:p.Trp306Ter
NM_001142805.1:c.917G>A	NP_001136277.1:p.Trp306Ter
NM_001142805.2:c.917G>A	NP_001136277.1:p.Trp306Ter
NM_001142806.1:c.572G>A	NP_001136278.1:p.Trp191Ter
NM_005629.3:c.917G>A	NP_005620.1:p.Trp306Ter
ENST00000253122.9:c.917G>A	ENSP00000253122.5:p.Trp306Ter
ENST00000413787.1:c.123-60G>A	ENSP00000400463.1:n.123-60G>A
ENST00000430077.6:c.572G>A	ENSP00000403041.2:p.Trp191Ter
ENST00000442457.1:c.1G>A
ENST00000467402.1:n.146-225G>A
ENST00000485324.1:n.950G>A