Canonical Allele Identifier: CA2740040772
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694073G>T , CM000685.2:g.153694073G>T GRCh38
NC_000023.10:g.152959528G>T , CM000685.1:g.152959528G>T GRCh37
NC_000023.9:g.152612722G>T NCBI36
NG_012016.1:g.10777G>T
NG_012016.2:g.10777G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1255-57G>T MANE Select ENSP00000253122.5:n.1255-57G>T
ENST00000253122.9:c.1255-57G>T ENSP00000253122.5:n.1255-57G>T
ENST00000413787.1:c.258-131G>T ENSP00000400463.1:n.258-131G>T
ENST00000430077.6:c.910-57G>T ENSP00000403041.2:n.910-57G>T
ENST00000442457.1:c.309-57G>T
ENST00000457723.1:c.238+56G>T ENSP00000394742.1:n.238+56G>T
ENST00000485324.1:n.1343G>T
NM_001142805.1:c.1225-57G>T NP_001136277.1:n.1225-57G>T
NM_001142806.1:c.910-57G>T NP_001136278.1:n.910-57G>T
NM_005629.3:c.1255-57G>T NP_005620.1:n.1255-57G>T
NM_005629.4:c.1255-57G>T MANE Select NP_005620.1:n.1255-57G>T
NM_001142805.2:c.1225-57G>T NP_001136277.1:n.1225-57G>T