Canonical Allele Identifier: CA2466438236
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694247G= , CM000685.2:g.153694247G= GRCh38
NC_000023.10:g.152959702G= , CM000685.1:g.152959702G= GRCh37
NC_000023.9:g.152612896G= NCBI36
NG_012016.1:g.10951G=
NG_012016.2:g.10951G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1372G= MANE Select ENSP00000253122.5:p.Asp458=
ENST00000253122.9:c.1372G= ENSP00000253122.5:p.Asp458=
ENST00000413787.1:c.301G= ENSP00000400463.1:p.Asp101=
ENST00000430077.6:c.1027G= ENSP00000403041.2:p.Asp343=
ENST00000442457.1:c.426G=
ENST00000485324.1:n.1517G=
NM_001142805.1:c.1342G= NP_001136277.1:p.Asp448=
NM_001142806.1:c.1027G= NP_001136278.1:p.Asp343=
NM_005629.3:c.1372G= NP_005620.1:p.Asp458=
NM_005629.4:c.1372G= MANE Select NP_005620.1:p.Asp458=
NM_001142805.2:c.1342G= NP_001136277.1:p.Asp448=