Canonical Allele Identifier: CA3186493

Gene: SLC6A3

Linked Data

• ClinVar Variation Id: 470641
• ClinVar RCV Id: RCV000554641 ; RCV002497165
• dbSNP Id: rs115160598
• ExAC: 5:1443253 C / T
• gnomAD v2: 5-1443253-C-T
• gnomAD v3: 5-1443138-C-T
• gnomAD v4: 5-1443138-C-T
• MyVariant Identifiers: chr5:g.1443253C>T (hg19) ; chr5:g.1443138C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1443138C>T , CM000667.2:g.1443138C>T	GRCh38
NC_000005.9:g.1443253C>T , CM000667.1:g.1443253C>T	GRCh37
NC_000005.8:g.1496253C>T	NCBI36
NG_015885.1:g.7291G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.60G>A MANE Select	ENSP00000270349.9:p.Glu20=
ENST00000270349.11:c.60G>A	ENSP00000270349.9:p.Glu20=
NM_001044.4:c.60G>A	NP_001035.1:p.Glu20=
NM_001044.5:c.60G>A MANE Select	NP_001035.1:p.Glu20=