Canonical Allele Identifier: CA112958625
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs530480462
gnomAD v3: 5-1428297-T-A
gnomAD v4: 5-1428297-T-A
MyVariant Identifiers: chr5:g.1428412T>A (hg19) chr5:g.1428297T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1428297T>A , CM000667.2:g.1428297T>A GRCh38
NC_000005.9:g.1428412T>A , CM000667.1:g.1428412T>A GRCh37
NC_000005.8:g.1481412T>A NCBI36
NG_015885.1:g.22132A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.653+4167A>T MANE Select ENSP00000270349.9:n.653+4167A>T
ENST00000270349.11:c.653+4167A>T ENSP00000270349.9:n.653+4167A>T
NM_001044.4:c.653+4167A>T NP_001035.1:n.653+4167A>T
NM_001044.5:c.653+4167A>T MANE Select NP_001035.1:n.653+4167A>T
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