Canonical Allele Identifier: CA2466438215
Gene: SLC6A8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.153694176C= , CM000685.2:g.153694176C= GRCh38
NC_000023.10:g.152959631C= , CM000685.1:g.152959631C= GRCh37
NC_000023.9:g.152612825C= NCBI36
NG_012016.1:g.10880C=
NG_012016.2:g.10880C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253122.10:c.1301C= MANE Select ENSP00000253122.5:p.Pro434=
ENST00000253122.9:c.1301C= ENSP00000253122.5:p.Pro434=
ENST00000413787.1:c.258-28C= ENSP00000400463.1:n.258-28C=
ENST00000430077.6:c.956C= ENSP00000403041.2:p.Pro319=
ENST00000442457.1:c.355C=
ENST00000485324.1:n.1446C=
NM_001142805.1:c.1271C= NP_001136277.1:p.Pro424=
NM_001142806.1:c.956C= NP_001136278.1:p.Pro319=
NM_005629.3:c.1301C= NP_005620.1:p.Pro434=
NM_005629.4:c.1301C= MANE Select NP_005620.1:p.Pro434=
NM_001142805.2:c.1271C= NP_001136277.1:p.Pro424=