Canonical Allele Identifier: CA415086754
Gene: SLC6A8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694172C>A , CM000685.2:g.153694172C>A GRCh38
NC_000023.10:g.152959627C>A , CM000685.1:g.152959627C>A GRCh37
NC_000023.9:g.152612821C>A NCBI36
NG_012016.1:g.10876C>A
NG_012016.2:g.10876C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1297C>A MANE Select ENSP00000253122.5:p.Leu433Ile
ENST00000253122.9:c.1297C>A ENSP00000253122.5:p.Leu433Ile
ENST00000413787.1:c.258-32C>A ENSP00000400463.1:n.258-32C>A
ENST00000430077.6:c.952C>A ENSP00000403041.2:p.Leu318Ile
ENST00000442457.1:c.351C>A
ENST00000485324.1:n.1442C>A
NM_001142805.1:c.1267C>A NP_001136277.1:p.Leu423Ile
NM_001142806.1:c.952C>A NP_001136278.1:p.Leu318Ile
NM_005629.3:c.1297C>A NP_005620.1:p.Leu433Ile
NM_005629.4:c.1297C>A MANE Select NP_005620.1:p.Leu433Ile
NM_001142805.2:c.1267C>A NP_001136277.1:p.Leu423Ile