Canonical Allele Identifier: CA415077838
Gene: SLC6A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690468G>T , CM000685.2:g.153690468G>T GRCh38
NC_000023.10:g.152955923G>T , CM000685.1:g.152955923G>T GRCh37
NC_000023.9:g.152609117G>T NCBI36
NG_012016.1:g.7172G>T
NG_012016.2:g.7172G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.356G>T MANE Select ENSP00000253122.5:p.Gly119Val
ENST00000675713.1:n.110G>T
ENST00000253122.9:c.356G>T ENSP00000253122.5:p.Gly119Val
ENST00000430077.6:c.11G>T ENSP00000403041.2:p.Gly4Val
ENST00000476466.1:n.208G>T
NM_001142805.1:c.356G>T NP_001136277.1:p.Gly119Val
NM_001142806.1:c.11G>T NP_001136278.1:p.Gly4Val
NM_005629.3:c.356G>T NP_005620.1:p.Gly119Val
NM_005629.4:c.356G>T MANE Select NP_005620.1:p.Gly119Val
NM_001142805.2:c.356G>T NP_001136277.1:p.Gly119Val