Canonical Allele Identifier: CA2590929226
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs2126385286
gnomAD v3: 5-1428334-C-A
gnomAD v4: 5-1428334-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1428334C>A , CM000667.2:g.1428334C>A GRCh38
NC_000005.9:g.1428449C>A , CM000667.1:g.1428449C>A GRCh37
NC_000005.8:g.1481449C>A NCBI36
NG_015885.1:g.22095G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.653+4130G>T MANE Select ENSP00000270349.9:n.653+4130G>T
ENST00000270349.11:c.653+4130G>T ENSP00000270349.9:n.653+4130G>T
NM_001044.4:c.653+4130G>T NP_001035.1:n.653+4130G>T
NM_001044.5:c.653+4130G>T MANE Select NP_001035.1:n.653+4130G>T
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