Canonical Allele Identifier: CA2466435829

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688599G= , CM000685.2:g.153688599G= GRCh38
NC_000023.10:g.152954054G= , CM000685.1:g.152954054G= GRCh37
NC_000023.9:g.152607248G= NCBI36
NG_012016.1:g.5303G=
NG_012016.2:g.5303G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.25G= (SLC6A8) MANE Select ENSP00000253122.5:p.Gly9=
ENST00000253122.9:c.25G= (SLC6A8) ENSP00000253122.5:p.Gly9=
ENST00000458354.5:c.-3+216C= (PNCK) ENSP00000401542.1:n.-3+216C=
ENST00000480693.1:n.64+216C= (PNCK)
NM_001142805.1:c.25G= (SLC6A8) NP_001136277.1:p.Gly9=
NM_005629.3:c.25G= (SLC6A8) NP_005620.1:p.Gly9=
NM_005629.4:c.25G= (SLC6A8) MANE Select NP_005620.1:p.Gly9=
NM_001142805.2:c.25G= (SLC6A8) NP_001136277.1:p.Gly9=