Canonical Allele Identifier: CA2740040780
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694078G>C , CM000685.2:g.153694078G>C GRCh38
NC_000023.10:g.152959533G>C , CM000685.1:g.152959533G>C GRCh37
NC_000023.9:g.152612727G>C NCBI36
NG_012016.1:g.10782G>C
NG_012016.2:g.10782G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000253122.10:c.1255-52G>C MANE Select ENSP00000253122.5:n.1255-52G>C
ENST00000253122.9:c.1255-52G>C ENSP00000253122.5:n.1255-52G>C
ENST00000413787.1:c.258-126G>C ENSP00000400463.1:n.258-126G>C
ENST00000430077.6:c.910-52G>C ENSP00000403041.2:n.910-52G>C
ENST00000442457.1:c.309-52G>C
ENST00000457723.1:c.239-59G>C ENSP00000394742.1:n.239-59G>C
ENST00000485324.1:n.1348G>C
NM_001142805.1:c.1225-52G>C NP_001136277.1:n.1225-52G>C
NM_001142806.1:c.910-52G>C NP_001136278.1:n.910-52G>C
NM_005629.3:c.1255-52G>C NP_005620.1:n.1255-52G>C
NM_005629.4:c.1255-52G>C MANE Select NP_005620.1:n.1255-52G>C
NM_001142805.2:c.1225-52G>C NP_001136277.1:n.1225-52G>C