Canonical Allele Identifier: CA112971048
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs548685281
gnomAD v3: 5-1444525-G-A
MyVariant Identifiers: chr5:g.1444640G>A (hg19) chr5:g.1444525G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1444525G>A , CM000667.2:g.1444525G>A GRCh38
NC_000005.9:g.1444640G>A , CM000667.1:g.1444640G>A GRCh37
NC_000005.8:g.1497640G>A NCBI36
NG_015885.1:g.5904C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-46+823C>T MANE Select ENSP00000270349.9:n.-46+823C>T
ENST00000270349.11:c.-46+823C>T ENSP00000270349.9:n.-46+823C>T
NM_001044.4:c.-46+823C>T NP_001035.1:n.-46+823C>T
NM_001044.5:c.-46+823C>T MANE Select NP_001035.1:n.-46+823C>T
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