Canonical Allele Identifier: CA415077849
Gene: SLC6A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690471G>A , CM000685.2:g.153690471G>A GRCh38
NC_000023.10:g.152955926G>A , CM000685.1:g.152955926G>A GRCh37
NC_000023.9:g.152609120G>A NCBI36
NG_012016.1:g.7175G>A
NG_012016.2:g.7175G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.359G>A MANE Select ENSP00000253122.5:p.Ser120Asn
ENST00000675713.1:n.113G>A
ENST00000253122.9:c.359G>A ENSP00000253122.5:p.Ser120Asn
ENST00000430077.6:c.14G>A ENSP00000403041.2:p.Ser5Asn
ENST00000476466.1:n.211G>A
NM_001142805.1:c.359G>A NP_001136277.1:p.Ser120Asn
NM_001142806.1:c.14G>A NP_001136278.1:p.Ser5Asn
NM_005629.3:c.359G>A NP_005620.1:p.Ser120Asn
NM_005629.4:c.359G>A MANE Select NP_005620.1:p.Ser120Asn
NM_001142805.2:c.359G>A NP_001136277.1:p.Ser120Asn