Canonical Allele Identifier: CA2466438221
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694184T= , CM000685.2:g.153694184T= GRCh38
NC_000023.10:g.152959639T= , CM000685.1:g.152959639T= GRCh37
NC_000023.9:g.152612833T= NCBI36
NG_012016.1:g.10888T=
NG_012016.2:g.10888T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1309T= MANE Select ENSP00000253122.5:p.Tyr437=
ENST00000253122.9:c.1309T= ENSP00000253122.5:p.Tyr437=
ENST00000413787.1:c.258-20T= ENSP00000400463.1:n.258-20T=
ENST00000430077.6:c.964T= ENSP00000403041.2:p.Tyr322=
ENST00000442457.1:c.363T=
ENST00000485324.1:n.1454T=
NM_001142805.1:c.1279T= NP_001136277.1:p.Tyr427=
NM_001142806.1:c.964T= NP_001136278.1:p.Tyr322=
NM_005629.3:c.1309T= NP_005620.1:p.Tyr437=
NM_005629.4:c.1309T= MANE Select NP_005620.1:p.Tyr437=
NM_001142805.2:c.1279T= NP_001136277.1:p.Tyr427=