Canonical Allele Identifier: CA2695039076

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153694073-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694073G>A , CM000685.2:g.153694073G>A	GRCh38
NC_000023.10:g.152959528G>A , CM000685.1:g.152959528G>A	GRCh37
NC_000023.9:g.152612722G>A	NCBI36
NG_012016.1:g.10777G>A
NG_012016.2:g.10777G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000253122.10:c.1255-57G>A MANE Select	ENSP00000253122.5:n.1255-57G>A
ENST00000253122.9:c.1255-57G>A	ENSP00000253122.5:n.1255-57G>A
ENST00000413787.1:c.258-131G>A	ENSP00000400463.1:n.258-131G>A
ENST00000430077.6:c.910-57G>A	ENSP00000403041.2:n.910-57G>A
ENST00000442457.1:c.309-57G>A
ENST00000457723.1:c.238+56G>A	ENSP00000394742.1:n.238+56G>A
ENST00000485324.1:n.1343G>A
NM_001142805.1:c.1225-57G>A	NP_001136277.1:n.1225-57G>A
NM_001142806.1:c.910-57G>A	NP_001136278.1:n.910-57G>A
NM_005629.3:c.1255-57G>A	NP_005620.1:n.1255-57G>A
NM_005629.4:c.1255-57G>A MANE Select	NP_005620.1:n.1255-57G>A
NM_001142805.2:c.1225-57G>A	NP_001136277.1:n.1225-57G>A