Canonical Allele Identifier: CA112968680
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs773608307
gnomAD v2: 5-1424060-G-A
gnomAD v3: 5-1423945-G-A
gnomAD v4: 5-1423945-G-A
MyVariant Identifiers: chr5:g.1424060G>A (hg19) chr5:g.1423945G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1423945G>A , CM000667.2:g.1423945G>A GRCh38
NC_000005.9:g.1424060G>A , CM000667.1:g.1424060G>A GRCh37
NC_000005.8:g.1477060G>A NCBI36
NG_015885.1:g.26484C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.654-1931C>T MANE Select ENSP00000270349.9:n.654-1931C>T
ENST00000270349.11:c.654-1931C>T ENSP00000270349.9:n.654-1931C>T
NM_001044.4:c.654-1931C>T NP_001035.1:n.654-1931C>T
NM_001044.5:c.654-1931C>T MANE Select NP_001035.1:n.654-1931C>T
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