Canonical Allele Identifier: CA415077240

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690373A>G , CM000685.2:g.153690373A>G	GRCh38
NC_000023.10:g.152955828A>G , CM000685.1:g.152955828A>G	GRCh37
NC_000023.9:g.152609022A>G	NCBI36
NG_012016.1:g.7077A>G
NG_012016.2:g.7077A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.263-2A>G MANE Select	NP_005620.1:n.263-2A>G
ENST00000253122.10:c.263-2A>G MANE Select	ENSP00000253122.5:n.263-2A>G
NM_001142805.1:c.263-2A>G	NP_001136277.1:n.263-2A>G
NM_001142805.2:c.263-2A>G	NP_001136277.1:n.263-2A>G
NM_001142806.1:c.-83-2A>G	NP_001136278.1:n.-83-2A>G
NM_005629.3:c.263-2A>G	NP_005620.1:n.263-2A>G
ENST00000253122.9:c.263-2A>G	ENSP00000253122.5:n.263-2A>G
ENST00000430077.6:c.-83-2A>G	ENSP00000403041.2:n.-83-2A>G
ENST00000476466.1:n.115-2A>G
ENST00000675713.1:n.15A>G