Canonical Allele Identifier: CA2573159331

Gene: SLC6A8

Linked Data

• ClinVar Variation Id: 1557392
• ClinVar RCV Id: RCV002194926
• dbSNP Id: rs2148363924

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694123G>C , CM000685.2:g.153694123G>C	GRCh38
NC_000023.10:g.152959578G>C , CM000685.1:g.152959578G>C	GRCh37
NC_000023.9:g.152612772G>C	NCBI36
NG_012016.1:g.10827G>C
NG_012016.2:g.10827G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1255-7G>C MANE Select	ENSP00000253122.5:n.1255-7G>C
ENST00000253122.9:c.1255-7G>C	ENSP00000253122.5:n.1255-7G>C
ENST00000413787.1:c.258-81G>C	ENSP00000400463.1:n.258-81G>C
ENST00000430077.6:c.910-7G>C	ENSP00000403041.2:n.910-7G>C
ENST00000442457.1:c.309-7G>C
ENST00000457723.1:c.239-14G>C	ENSP00000394742.1:n.239-14G>C
ENST00000485324.1:n.1393G>C
NM_001142805.1:c.1225-7G>C	NP_001136277.1:n.1225-7G>C
NM_001142806.1:c.910-7G>C	NP_001136278.1:n.910-7G>C
NM_005629.3:c.1255-7G>C	NP_005620.1:n.1255-7G>C
NM_005629.4:c.1255-7G>C MANE Select	NP_005620.1:n.1255-7G>C
NM_001142805.2:c.1225-7G>C	NP_001136277.1:n.1225-7G>C