Canonical Allele Identifier: CA10549449
Community Standard Title: NM_005629.4(SLC6A8):c.1221C>T (p.Phe407=)
Gene: SLC6A8 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153693984C>T , CM000685.2:g.153693984C>T GRCh38
NC_000023.10:g.152959439C>T , CM000685.1:g.152959439C>T GRCh37
NC_000023.9:g.152612633C>T NCBI36
NG_012016.1:g.10688C>T
NG_012016.2:g.10688C>T

Transcript Alleles

HGVS Amino-acid Change
NM_005629.4:c.1221C>T MANE Select NP_005620.1:p.Phe407=
ENST00000253122.10:c.1221C>T MANE Select ENSP00000253122.5:p.Phe407=
NM_001142805.1:c.1191C>T NP_001136277.1:p.Phe397=
NM_001142805.2:c.1191C>T NP_001136277.1:p.Phe397=
NM_001142806.1:c.876C>T NP_001136278.1:p.Phe292=
NM_005629.3:c.1221C>T NP_005620.1:p.Phe407=
ENST00000253122.9:c.1221C>T ENSP00000253122.5:p.Phe407=
ENST00000413787.1:c.258-220C>T ENSP00000400463.1:n.258-220C>T
ENST00000430077.6:c.876C>T ENSP00000403041.2:p.Phe292=
ENST00000442457.1:c.275C>T
ENST00000457723.1:c.205C>T ENSP00000394742.1:p.Leu69Phe
ENST00000485324.1:n.1254C>T
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