Canonical Allele Identifier: CA2466436619
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153690522C= , CM000685.2:g.153690522C= GRCh38
NC_000023.10:g.152955977C= , CM000685.1:g.152955977C= GRCh37
NC_000023.9:g.152609171C= NCBI36
NG_012016.1:g.7226C=
NG_012016.2:g.7226C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.394+16C= MANE Select ENSP00000253122.5:n.394+16C=
ENST00000675713.1:n.148+16C=
ENST00000253122.9:c.394+16C= ENSP00000253122.5:n.394+16C=
ENST00000430077.6:c.49+16C= ENSP00000403041.2:n.49+16C=
ENST00000476466.1:n.262C=
NM_001142805.1:c.394+16C= NP_001136277.1:n.394+16C=
NM_001142806.1:c.49+16C= NP_001136278.1:n.49+16C=
NM_005629.3:c.394+16C= NP_005620.1:n.394+16C=
NM_005629.4:c.394+16C= MANE Select NP_005620.1:n.394+16C=
NM_001142805.2:c.394+16C= NP_001136277.1:n.394+16C=