Canonical Allele Identifier: CA1072530165

Gene: SLC6A3

Linked Data

• dbSNP Id: rs1756617248
• gnomAD v3: 5-1428307-A-T
• gnomAD v4: 5-1428307-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1428307A>T , CM000667.2:g.1428307A>T	GRCh38
NC_000005.9:g.1428422A>T , CM000667.1:g.1428422A>T	GRCh37
NC_000005.8:g.1481422A>T	NCBI36
NG_015885.1:g.22122T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270349.12:c.653+4157T>A MANE Select	ENSP00000270349.9:n.653+4157T>A
ENST00000270349.11:c.653+4157T>A	ENSP00000270349.9:n.653+4157T>A
NM_001044.4:c.653+4157T>A	NP_001035.1:n.653+4157T>A
NM_001044.5:c.653+4157T>A MANE Select	NP_001035.1:n.653+4157T>A