Canonical Allele Identifier: CA415079430

Gene: SLC6A8

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153691535C>G , CM000685.2:g.153691535C>G	GRCh38
NC_000023.10:g.152956990C>G , CM000685.1:g.152956990C>G	GRCh37
NC_000023.9:g.152610184C>G	NCBI36
NG_012016.1:g.8239C>G
NG_012016.2:g.8239C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005629.4:c.626C>G MANE Select	NP_005620.1:p.Pro209Arg
ENST00000253122.10:c.626C>G MANE Select	ENSP00000253122.5:p.Pro209Arg
NM_001142805.1:c.626C>G	NP_001136277.1:p.Pro209Arg
NM_001142805.2:c.626C>G	NP_001136277.1:p.Pro209Arg
NM_001142806.1:c.281C>G	NP_001136278.1:p.Pro94Arg
NM_005629.3:c.626C>G	NP_005620.1:p.Pro209Arg
ENST00000253122.9:c.626C>G	ENSP00000253122.5:p.Pro209Arg
ENST00000429147.1:c.75C>G
ENST00000430077.6:c.281C>G	ENSP00000403041.2:p.Pro94Arg
ENST00000466243.1:n.418C>G
ENST00000467402.1:n.145+28C>G
ENST00000675713.1:n.380C>G