Canonical Allele Identifier: CA804830932
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1271181202
gnomAD v3: 5-1421854-A-C
gnomAD v4: 5-1421854-A-C
MyVariant Identifiers: chr5:g.1421969A>C (hg19) chr5:g.1421854A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1421854A>C , CM000667.2:g.1421854A>C GRCh38
NC_000005.9:g.1421969A>C , CM000667.1:g.1421969A>C GRCh37
NC_000005.8:g.1474969A>C NCBI36
NG_015885.1:g.28575T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.792+22T>G MANE Select ENSP00000270349.9:n.792+22T>G
ENST00000270349.11:c.792+22T>G ENSP00000270349.9:n.792+22T>G
NM_001044.4:c.792+22T>G NP_001035.1:n.792+22T>G
NM_001044.5:c.792+22T>G MANE Select NP_001035.1:n.792+22T>G
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