Canonical Allele Identifier: CA2466435780

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688530G= , CM000685.2:g.153688530G= GRCh38
NC_000023.10:g.152953985G= , CM000685.1:g.152953985G= GRCh37
NC_000023.9:g.152607179G= NCBI36
NG_012016.1:g.5234G=
NG_012016.2:g.5234G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.-45G= (SLC6A8) MANE Select ENSP00000253122.5:n.-45G=
ENST00000253122.9:c.-45G= (SLC6A8) ENSP00000253122.5:n.-45G=
ENST00000458354.5:c.-3+285C= (PNCK) ENSP00000401542.1:n.-3+285C=
ENST00000480693.1:n.64+285C= (PNCK)
NM_001142805.1:c.-45G= (SLC6A8) NP_001136277.1:n.-45G=
NM_005629.3:c.-45G= (SLC6A8) NP_005620.1:n.-45G=
NM_005629.4:c.-45G= (SLC6A8) MANE Select NP_005620.1:n.-45G=
NM_001142805.2:c.-45G= (SLC6A8) NP_001136277.1:n.-45G=