Canonical Allele Identifier: CA112963051
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs572793759
gnomAD v3: 5-1414351-G-C
gnomAD v4: 5-1414351-G-C
MyVariant Identifiers: chr5:g.1414466G>C (hg19) chr5:g.1414351G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414351G>C , CM000667.2:g.1414351G>C GRCh38
NC_000005.9:g.1414466G>C , CM000667.1:g.1414466G>C GRCh37
NC_000005.8:g.1467466G>C NCBI36
NG_015885.1:g.36078C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+340C>G MANE Select ENSP00000270349.9:n.1156+340C>G
ENST00000270349.11:c.1156+340C>G ENSP00000270349.9:n.1156+340C>G
NM_001044.4:c.1156+340C>G NP_001035.1:n.1156+340C>G
NM_001044.5:c.1156+340C>G MANE Select NP_001035.1:n.1156+340C>G
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