Canonical Allele Identifier: CA2466435831

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688604C= , CM000685.2:g.153688604C= GRCh38
NC_000023.10:g.152954059C= , CM000685.1:g.152954059C= GRCh37
NC_000023.9:g.152607253C= NCBI36
NG_012016.1:g.5308C=
NG_012016.2:g.5308C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.30C= (SLC6A8) MANE Select ENSP00000253122.5:p.Ile10=
ENST00000253122.9:c.30C= (SLC6A8) ENSP00000253122.5:p.Ile10=
ENST00000458354.5:c.-3+211G= (PNCK) ENSP00000401542.1:n.-3+211G=
ENST00000480693.1:n.64+211G= (PNCK)
NM_001142805.1:c.30C= (SLC6A8) NP_001136277.1:p.Ile10=
NM_005629.3:c.30C= (SLC6A8) NP_005620.1:p.Ile10=
NM_005629.4:c.30C= (SLC6A8) MANE Select NP_005620.1:p.Ile10=
NM_001142805.2:c.30C= (SLC6A8) NP_001136277.1:p.Ile10=