Canonical Allele Identifier: CA112968648
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs897447149
gnomAD v3: 5-1423901-C-G
gnomAD v4: 5-1423901-C-G
MyVariant Identifiers: chr5:g.1424016C>G (hg19) chr5:g.1423901C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1423901C>G , CM000667.2:g.1423901C>G GRCh38
NC_000005.9:g.1424016C>G , CM000667.1:g.1424016C>G GRCh37
NC_000005.8:g.1477016C>G NCBI36
NG_015885.1:g.26528G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.654-1887G>C MANE Select ENSP00000270349.9:n.654-1887G>C
ENST00000270349.11:c.654-1887G>C ENSP00000270349.9:n.654-1887G>C
NM_001044.4:c.654-1887G>C NP_001035.1:n.654-1887G>C
NM_001044.5:c.654-1887G>C MANE Select NP_001035.1:n.654-1887G>C
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