Canonical Allele Identifier: CA2695039341

Gene: SLC6A8

Linked Data

• gnomAD v4: X-153694284-G-GTC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153694286_153694287dup , CM000685.2:g.153694286_153694287dup	GRCh38
NC_000023.10:g.152959741_152959742dup , CM000685.1:g.152959741_152959742dup	GRCh37
NC_000023.9:g.152612935_152612936dup	NCBI36
NG_012016.1:g.10990_10991dup
NG_012016.2:g.10990_10991dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.1392+19_1392+20dup MANE Select	ENSP00000253122.5:n.1392+19_1392+20dup
ENST00000253122.9:c.1392+19_1392+20dup	ENSP00000253122.5:n.1392+19_1392+20dup
ENST00000413787.1:c.321+19_321+20dup	ENSP00000400463.1:n.321+19_321+20dup
ENST00000430077.6:c.1047+19_1047+20dup	ENSP00000403041.2:n.1047+19_1047+20dup
ENST00000442457.1:c.446+19_446+20dup
ENST00000485324.1:n.1556_1557dup
NM_001142805.1:c.1362+19_1362+20dup	NP_001136277.1:n.1362+19_1362+20dup
NM_001142806.1:c.1047+19_1047+20dup	NP_001136278.1:n.1047+19_1047+20dup
NM_005629.3:c.1392+19_1392+20dup	NP_005620.1:n.1392+19_1392+20dup
NM_005629.4:c.1392+19_1392+20dup MANE Select	NP_005620.1:n.1392+19_1392+20dup
NM_001142805.2:c.1362+19_1362+20dup	NP_001136277.1:n.1362+19_1362+20dup