Canonical Allele Identifier: CA112964174

Gene: SLC6A3

Linked Data

• dbSNP Id: rs991816118
• gnomAD v2: 5-1416048-T-G
• gnomAD v3: 5-1415933-T-G
• gnomAD v4: 5-1415933-T-G
• MyVariant Identifiers: chr5:g.1416048T>G (hg19) ; chr5:g.1415933T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1415933T>G , CM000667.2:g.1415933T>G	GRCh38
NC_000005.9:g.1416048T>G , CM000667.1:g.1416048T>G	GRCh37
NC_000005.8:g.1469048T>G	NCBI36
NG_015885.1:g.34496A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1031+165A>C MANE Select	ENSP00000270349.9:n.1031+165A>C
ENST00000270349.11:c.1031+165A>C	ENSP00000270349.9:n.1031+165A>C
ENST00000511750.1:n.481+165A>C
NM_001044.4:c.1031+165A>C	NP_001035.1:n.1031+165A>C
NM_001044.5:c.1031+165A>C MANE Select	NP_001035.1:n.1031+165A>C