Canonical Allele Identifier: CA415087128
Gene: SLC6A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694266A>G , CM000685.2:g.153694266A>G GRCh38
NC_000023.10:g.152959721A>G , CM000685.1:g.152959721A>G GRCh37
NC_000023.9:g.152612915A>G NCBI36
NG_012016.1:g.10970A>G
NG_012016.2:g.10970A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1391A>G MANE Select ENSP00000253122.5:p.Asp464Gly
ENST00000253122.9:c.1391A>G ENSP00000253122.5:p.Asp464Gly
ENST00000413787.1:c.320A>G ENSP00000400463.1:p.Asp107Gly
ENST00000430077.6:c.1046A>G ENSP00000403041.2:p.Asp349Gly
ENST00000442457.1:c.445A>G
ENST00000485324.1:n.1536A>G
NM_001142805.1:c.1361A>G NP_001136277.1:p.Asp454Gly
NM_001142806.1:c.1046A>G NP_001136278.1:p.Asp349Gly
NM_005629.3:c.1391A>G NP_005620.1:p.Asp464Gly
NM_005629.4:c.1391A>G MANE Select NP_005620.1:p.Asp464Gly
NM_001142805.2:c.1361A>G NP_001136277.1:p.Asp454Gly