Canonical Allele Identifier: CA2740040873

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694287T>G , CM000685.2:g.153694287T>G	GRCh38
NC_000023.10:g.152959742T>G , CM000685.1:g.152959742T>G	GRCh37
NC_000023.9:g.152612936T>G	NCBI36
NG_012016.1:g.10991T>G
NG_012016.2:g.10991T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1392+20T>G MANE Select	ENSP00000253122.5:n.1392+20T>G
ENST00000253122.9:c.1392+20T>G	ENSP00000253122.5:n.1392+20T>G
ENST00000413787.1:c.321+20T>G	ENSP00000400463.1:n.321+20T>G
ENST00000430077.6:c.1047+20T>G	ENSP00000403041.2:n.1047+20T>G
ENST00000442457.1:c.446+20T>G
ENST00000485324.1:n.1557T>G
NM_001142805.1:c.1362+20T>G	NP_001136277.1:n.1362+20T>G
NM_001142806.1:c.1047+20T>G	NP_001136278.1:n.1047+20T>G
NM_005629.3:c.1392+20T>G	NP_005620.1:n.1392+20T>G
NM_005629.4:c.1392+20T>G MANE Select	NP_005620.1:n.1392+20T>G
NM_001142805.2:c.1362+20T>G	NP_001136277.1:n.1362+20T>G