Canonical Allele Identifier: CA2466438222
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694185A= , CM000685.2:g.153694185A= GRCh38
NC_000023.10:g.152959640A= , CM000685.1:g.152959640A= GRCh37
NC_000023.9:g.152612834A= NCBI36
NG_012016.1:g.10889A=
NG_012016.2:g.10889A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1310A= MANE Select ENSP00000253122.5:p.Tyr437=
ENST00000253122.9:c.1310A= ENSP00000253122.5:p.Tyr437=
ENST00000413787.1:c.258-19A= ENSP00000400463.1:n.258-19A=
ENST00000430077.6:c.965A= ENSP00000403041.2:p.Tyr322=
ENST00000442457.1:c.364A=
ENST00000485324.1:n.1455A=
NM_001142805.1:c.1280A= NP_001136277.1:p.Tyr427=
NM_001142806.1:c.965A= NP_001136278.1:p.Tyr322=
NM_005629.3:c.1310A= NP_005620.1:p.Tyr437=
NM_005629.4:c.1310A= MANE Select NP_005620.1:p.Tyr437=
NM_001142805.2:c.1280A= NP_001136277.1:p.Tyr427=