Canonical Allele Identifier: CA112962237
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1014049226
gnomAD v3: 5-1431085-A-G
gnomAD v4: 5-1431085-A-G
MyVariant Identifiers: chr5:g.1431200A>G (hg19) chr5:g.1431085A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1431085A>G , CM000667.2:g.1431085A>G GRCh38
NC_000005.9:g.1431200A>G , CM000667.1:g.1431200A>G GRCh37
NC_000005.8:g.1484200A>G NCBI36
NG_015885.1:g.19344T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.653+1379T>C MANE Select ENSP00000270349.9:n.653+1379T>C
ENST00000270349.11:c.653+1379T>C ENSP00000270349.9:n.653+1379T>C
NM_001044.4:c.653+1379T>C NP_001035.1:n.653+1379T>C
NM_001044.5:c.653+1379T>C MANE Select NP_001035.1:n.653+1379T>C
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