Canonical Allele Identifier: CA2466435789

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688545C= , CM000685.2:g.153688545C= GRCh38
NC_000023.10:g.152954000C= , CM000685.1:g.152954000C= GRCh37
NC_000023.9:g.152607194C= NCBI36
NG_012016.1:g.5249C=
NG_012016.2:g.5249C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.-30C= (SLC6A8) MANE Select ENSP00000253122.5:n.-30C=
ENST00000253122.9:c.-30C= (SLC6A8) ENSP00000253122.5:n.-30C=
ENST00000458354.5:c.-3+270G= (PNCK) ENSP00000401542.1:n.-3+270G=
ENST00000480693.1:n.64+270G= (PNCK)
NM_001142805.1:c.-30C= (SLC6A8) NP_001136277.1:n.-30C=
NM_005629.3:c.-30C= (SLC6A8) NP_005620.1:n.-30C=
NM_005629.4:c.-30C= (SLC6A8) MANE Select NP_005620.1:n.-30C=
NM_001142805.2:c.-30C= (SLC6A8) NP_001136277.1:n.-30C=