Canonical Allele Identifier: CA2573159465

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1531153
• ClinVar RCV Id: RCV002099569
• dbSNP Id: rs2148360189

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690516C>T , CM000685.2:g.153690516C>T	GRCh38
NC_000023.10:g.152955971C>T , CM000685.1:g.152955971C>T	GRCh37
NC_000023.9:g.152609165C>T	NCBI36
NG_012016.1:g.7220C>T
NG_012016.2:g.7220C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.394+10C>T MANE Select	ENSP00000253122.5:n.394+10C>T
ENST00000675713.1:n.148+10C>T
ENST00000253122.9:c.394+10C>T	ENSP00000253122.5:n.394+10C>T
ENST00000430077.6:c.49+10C>T	ENSP00000403041.2:n.49+10C>T
ENST00000476466.1:n.256C>T
NM_001142805.1:c.394+10C>T	NP_001136277.1:n.394+10C>T
NM_001142806.1:c.49+10C>T	NP_001136278.1:n.49+10C>T
NM_005629.3:c.394+10C>T	NP_005620.1:n.394+10C>T
NM_005629.4:c.394+10C>T MANE Select	NP_005620.1:n.394+10C>T
NM_001142805.2:c.394+10C>T	NP_001136277.1:n.394+10C>T