Canonical Allele Identifier: CA415084391

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153693262G>A , CM000685.2:g.153693262G>A	GRCh38
NC_000023.10:g.152958717G>A , CM000685.1:g.152958717G>A	GRCh37
NC_000023.9:g.152611911G>A	NCBI36
NG_012016.1:g.9966G>A
NG_012016.2:g.9966G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.913-1G>A MANE Select	NP_005620.1:n.913-1G>A
ENST00000253122.10:c.913-1G>A MANE Select	ENSP00000253122.5:n.913-1G>A
NM_001142805.1:c.913-1G>A	NP_001136277.1:n.913-1G>A
NM_001142805.2:c.913-1G>A	NP_001136277.1:n.913-1G>A
NM_001142806.1:c.568-1G>A	NP_001136278.1:n.568-1G>A
NM_005629.3:c.913-1G>A	NP_005620.1:n.913-1G>A
ENST00000253122.9:c.913-1G>A	ENSP00000253122.5:n.913-1G>A
ENST00000413787.1:c.123-65G>A	ENSP00000400463.1:n.123-65G>A
ENST00000430077.6:c.568-1G>A	ENSP00000403041.2:n.568-1G>A
ENST00000467402.1:n.146-230G>A
ENST00000485324.1:n.946-1G>A