Canonical Allele Identifier: CA2466435914

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153688839G= , CM000685.2:g.153688839G= GRCh38
NC_000023.10:g.152954294G= , CM000685.1:g.152954294G= GRCh37
NC_000023.9:g.152607488G= NCBI36
NG_012016.1:g.5543G=
NG_012016.2:g.5543G=

Transcript Alleles

HGVS Amino-acid change
ENST00000253122.10:c.262+3G= (SLC6A8) MANE Select ENSP00000253122.5:n.262+3G=
ENST00000253122.9:c.262+3G= (SLC6A8) ENSP00000253122.5:n.262+3G=
ENST00000458354.5:c.-27C= (PNCK) ENSP00000401542.1:n.-27C=
ENST00000476466.1:n.114+3G= (SLC6A8)
ENST00000480693.1:n.40C= (PNCK)
NM_001142805.1:c.262+3G= (SLC6A8) NP_001136277.1:n.262+3G=
NM_005629.3:c.262+3G= (SLC6A8) NP_005620.1:n.262+3G=
NM_005629.4:c.262+3G= (SLC6A8) MANE Select NP_005620.1:n.262+3G=
NM_001142805.2:c.262+3G= (SLC6A8) NP_001136277.1:n.262+3G=