Canonical Allele Identifier: CA415086285
Gene: SLC6A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693942C>A , CM000685.2:g.153693942C>A GRCh38
NC_000023.10:g.152959397C>A , CM000685.1:g.152959397C>A GRCh37
NC_000023.9:g.152612591C>A NCBI36
NG_012016.1:g.10646C>A
NG_012016.2:g.10646C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1179C>A MANE Select ENSP00000253122.5:p.Val393=
ENST00000253122.9:c.1179C>A ENSP00000253122.5:p.Val393=
ENST00000413787.1:c.258-262C>A ENSP00000400463.1:n.258-262C>A
ENST00000430077.6:c.834C>A ENSP00000403041.2:p.Val278=
ENST00000442457.1:c.233C>A
ENST00000457723.1:c.163C>A ENSP00000394742.1:p.His55Asn
ENST00000467402.1:n.278C>A
ENST00000485324.1:n.1212C>A
NM_001142805.1:c.1149C>A NP_001136277.1:p.Val383=
NM_001142806.1:c.834C>A NP_001136278.1:p.Val278=
NM_005629.3:c.1179C>A NP_005620.1:p.Val393=
NM_005629.4:c.1179C>A MANE Select NP_005620.1:p.Val393=
NM_001142805.2:c.1149C>A NP_001136277.1:p.Val383=