Canonical Allele Identifier: CA112963120
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs56968778
gnomAD v3: 5-1414431-A-G
gnomAD v4: 5-1414431-A-G
MyVariant Identifiers: chr5:g.1414546A>G (hg19) chr5:g.1414431A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414431A>G , CM000667.2:g.1414431A>G GRCh38
NC_000005.9:g.1414546A>G , CM000667.1:g.1414546A>G GRCh37
NC_000005.8:g.1467546A>G NCBI36
NG_015885.1:g.35998T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+260T>C MANE Select ENSP00000270349.9:n.1156+260T>C
ENST00000270349.11:c.1156+260T>C ENSP00000270349.9:n.1156+260T>C
NM_001044.4:c.1156+260T>C NP_001035.1:n.1156+260T>C
NM_001044.5:c.1156+260T>C MANE Select NP_001035.1:n.1156+260T>C
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