Canonical Allele Identifier: CA2740040801
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694094C>G , CM000685.2:g.153694094C>G GRCh38
NC_000023.10:g.152959549C>G , CM000685.1:g.152959549C>G GRCh37
NC_000023.9:g.152612743C>G NCBI36
NG_012016.1:g.10798C>G
NG_012016.2:g.10798C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1255-36C>G MANE Select ENSP00000253122.5:n.1255-36C>G
ENST00000253122.9:c.1255-36C>G ENSP00000253122.5:n.1255-36C>G
ENST00000413787.1:c.258-110C>G ENSP00000400463.1:n.258-110C>G
ENST00000430077.6:c.910-36C>G ENSP00000403041.2:n.910-36C>G
ENST00000442457.1:c.309-36C>G
ENST00000457723.1:c.239-43C>G ENSP00000394742.1:n.239-43C>G
ENST00000485324.1:n.1364C>G
NM_001142805.1:c.1225-36C>G NP_001136277.1:n.1225-36C>G
NM_001142806.1:c.910-36C>G NP_001136278.1:n.910-36C>G
NM_005629.3:c.1255-36C>G NP_005620.1:n.1255-36C>G
NM_005629.4:c.1255-36C>G MANE Select NP_005620.1:n.1255-36C>G
NM_001142805.2:c.1225-36C>G NP_001136277.1:n.1225-36C>G