Canonical Allele Identifier: CA1138541128

Gene: SLC6A8

Linked Data

• gnomAD v3: X-153690528-T-TC
• gnomAD v4: X-153690528-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153690529dup , CM000685.2:g.153690529dup	GRCh38
NC_000023.10:g.152955984dup , CM000685.1:g.152955984dup	GRCh37
NC_000023.9:g.152609178dup	NCBI36
NG_012016.1:g.7233dup
NG_012016.2:g.7233dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253122.10:c.394+23dup MANE Select	ENSP00000253122.5:n.394+23dup
ENST00000675713.1:n.148+23dup
ENST00000253122.9:c.394+23dup	ENSP00000253122.5:n.394+23dup
ENST00000430077.6:c.49+23dup	ENSP00000403041.2:n.49+23dup
ENST00000476466.1:n.269dup
NM_001142805.1:c.394+23dup	NP_001136277.1:n.394+23dup
NM_001142806.1:c.49+23dup	NP_001136278.1:n.49+23dup
NM_005629.3:c.394+23dup	NP_005620.1:n.394+23dup
NM_005629.4:c.394+23dup MANE Select	NP_005620.1:n.394+23dup
NM_001142805.2:c.394+23dup	NP_001136277.1:n.394+23dup