Canonical Allele Identifier: CA112963088

Gene: SLC6A3

Linked Data

• ClinVar Variation Id: 1196948
• ClinVar RCV Id: RCV001560615
• dbSNP Id: rs796844973
• gnomAD v2: 5-1414536-C-A
• gnomAD v3: 5-1414421-C-A
• gnomAD v4: 5-1414421-C-A
• MyVariant Identifiers: chr5:g.1414536C>A (hg19) ; chr5:g.1414536_1414541delinsAGGAGA (hg19) ; chr5:g.1414421C>A (hg38) ; chr5:g.1414421_1414426delinsAGGAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1414421C>A , CM000667.2:g.1414421C>A	GRCh38
NC_000005.9:g.1414536C>A , CM000667.1:g.1414536C>A	GRCh37
NC_000005.8:g.1467536C>A	NCBI36
NG_015885.1:g.36008G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.1156+270G>T MANE Select	ENSP00000270349.9:n.1156+270G>T
ENST00000270349.11:c.1156+270G>T	ENSP00000270349.9:n.1156+270G>T
NM_001044.4:c.1156+270G>T	NP_001035.1:n.1156+270G>T
NM_001044.5:c.1156+270G>T MANE Select	NP_001035.1:n.1156+270G>T