Canonical Allele Identifier: CA112964257

Gene: SLC6A3

Linked Data

• dbSNP Id: rs891865844
• gnomAD v2: 5-1416141-C-T
• gnomAD v3: 5-1416026-C-T
• gnomAD v4: 5-1416026-C-T
• MyVariant Identifiers: chr5:g.1416141C>T (hg19) ; chr5:g.1416026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1416026C>T , CM000667.2:g.1416026C>T	GRCh38
NC_000005.9:g.1416141C>T , CM000667.1:g.1416141C>T	GRCh37
NC_000005.8:g.1469141C>T	NCBI36
NG_015885.1:g.34403G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1031+72G>A MANE Select	ENSP00000270349.9:n.1031+72G>A
ENST00000270349.11:c.1031+72G>A	ENSP00000270349.9:n.1031+72G>A
ENST00000511750.1:n.481+72G>A
NM_001044.4:c.1031+72G>A	NP_001035.1:n.1031+72G>A
NM_001044.5:c.1031+72G>A MANE Select	NP_001035.1:n.1031+72G>A