Canonical Allele Identifier: CA557551930
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1403466785
gnomAD v2: 5-1428012-A-G
gnomAD v3: 5-1427897-A-G
gnomAD v4: 5-1427897-A-G
MyVariant Identifiers: chr5:g.1428012A>G (hg19) chr5:g.1427897A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1427897A>G , CM000667.2:g.1427897A>G GRCh38
NC_000005.9:g.1428012A>G , CM000667.1:g.1428012A>G GRCh37
NC_000005.8:g.1481012A>G NCBI36
NG_015885.1:g.22532T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.653+4567T>C MANE Select ENSP00000270349.9:n.653+4567T>C
ENST00000270349.11:c.653+4567T>C ENSP00000270349.9:n.653+4567T>C
NM_001044.4:c.653+4567T>C NP_001035.1:n.653+4567T>C
NM_001044.5:c.653+4567T>C MANE Select NP_001035.1:n.653+4567T>C
Search 100 bp 5'
Search 100 bp 3'