Canonical Allele Identifier: CA415084053

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693140C>G , CM000685.2:g.153693140C>G	GRCh38
NC_000023.10:g.152958595C>G , CM000685.1:g.152958595C>G	GRCh37
NC_000023.9:g.152611789C>G	NCBI36
NG_012016.1:g.9844C>G
NG_012016.2:g.9844C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.877C>G MANE Select	ENSP00000253122.5:p.Leu293Val
ENST00000253122.9:c.877C>G	ENSP00000253122.5:p.Leu293Val
ENST00000413787.1:c.87C>G	ENSP00000400463.1:p.Ile29Met
ENST00000430077.6:c.532C>G	ENSP00000403041.2:p.Leu178Val
ENST00000467402.1:n.146-352C>G
ENST00000485324.1:n.910C>G
NM_001142805.1:c.877C>G	NP_001136277.1:p.Leu293Val
NM_001142806.1:c.532C>G	NP_001136278.1:p.Leu178Val
NM_005629.3:c.877C>G	NP_005620.1:p.Leu293Val
NM_005629.4:c.877C>G MANE Select	NP_005620.1:p.Leu293Val
NM_001142805.2:c.877C>G	NP_001136277.1:p.Leu293Val