Canonical Allele Identifier: CA2695039079

Gene: SLC6A8

Linked Data

• dbSNP Id: rs1400630257
• gnomAD v4: X-153694075-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694075C>G , CM000685.2:g.153694075C>G	GRCh38
NC_000023.10:g.152959530C>G , CM000685.1:g.152959530C>G	GRCh37
NC_000023.9:g.152612724C>G	NCBI36
NG_012016.1:g.10779C>G
NG_012016.2:g.10779C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1255-55C>G MANE Select	ENSP00000253122.5:n.1255-55C>G
ENST00000253122.9:c.1255-55C>G	ENSP00000253122.5:n.1255-55C>G
ENST00000413787.1:c.258-129C>G	ENSP00000400463.1:n.258-129C>G
ENST00000430077.6:c.910-55C>G	ENSP00000403041.2:n.910-55C>G
ENST00000442457.1:c.309-55C>G
ENST00000457723.1:c.238+58C>G	ENSP00000394742.1:n.238+58C>G
ENST00000485324.1:n.1345C>G
NM_001142805.1:c.1225-55C>G	NP_001136277.1:n.1225-55C>G
NM_001142806.1:c.910-55C>G	NP_001136278.1:n.910-55C>G
NM_005629.3:c.1255-55C>G	NP_005620.1:n.1255-55C>G
NM_005629.4:c.1255-55C>G MANE Select	NP_005620.1:n.1255-55C>G
NM_001142805.2:c.1225-55C>G	NP_001136277.1:n.1225-55C>G