Canonical Allele Identifier: CA2466435848

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688646G= , CM000685.2:g.153688646G= GRCh38
NC_000023.10:g.152954101G= , CM000685.1:g.152954101G= GRCh37
NC_000023.9:g.152607295G= NCBI36
NG_012016.1:g.5350G=
NG_012016.2:g.5350G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.72G= (SLC6A8) MANE Select ENSP00000253122.5:p.Ala24=
ENST00000253122.9:c.72G= (SLC6A8) ENSP00000253122.5:p.Ala24=
ENST00000458354.5:c.-3+169C= (PNCK) ENSP00000401542.1:n.-3+169C=
ENST00000480693.1:n.64+169C= (PNCK)
NM_001142805.1:c.72G= (SLC6A8) NP_001136277.1:p.Ala24=
NM_005629.3:c.72G= (SLC6A8) NP_005620.1:p.Ala24=
NM_005629.4:c.72G= (SLC6A8) MANE Select NP_005620.1:p.Ala24=
NM_001142805.2:c.72G= (SLC6A8) NP_001136277.1:p.Ala24=