Canonical Allele Identifier: CA112958603
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs144422008
gnomAD v3: 5-1428250-A-C
gnomAD v4: 5-1428250-A-C
MyVariant Identifiers: chr5:g.1428365A>C (hg19) chr5:g.1428250A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1428250A>C , CM000667.2:g.1428250A>C GRCh38
NC_000005.9:g.1428365A>C , CM000667.1:g.1428365A>C GRCh37
NC_000005.8:g.1481365A>C NCBI36
NG_015885.1:g.22179T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.653+4214T>G MANE Select ENSP00000270349.9:n.653+4214T>G
ENST00000270349.11:c.653+4214T>G ENSP00000270349.9:n.653+4214T>G
NM_001044.4:c.653+4214T>G NP_001035.1:n.653+4214T>G
NM_001044.5:c.653+4214T>G MANE Select NP_001035.1:n.653+4214T>G
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