Canonical Allele Identifier: CA557552386
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1172873661
gnomAD v2: 5-1431068-C-G
gnomAD v3: 5-1430953-C-G
gnomAD v4: 5-1430953-C-G
MyVariant Identifiers: chr5:g.1431068C>G (hg19) chr5:g.1430953C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1430953C>G , CM000667.2:g.1430953C>G GRCh38
NC_000005.9:g.1431068C>G , CM000667.1:g.1431068C>G GRCh37
NC_000005.8:g.1484068C>G NCBI36
NG_015885.1:g.19476G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.653+1511G>C MANE Select ENSP00000270349.9:n.653+1511G>C
ENST00000270349.11:c.653+1511G>C ENSP00000270349.9:n.653+1511G>C
NM_001044.4:c.653+1511G>C NP_001035.1:n.653+1511G>C
NM_001044.5:c.653+1511G>C MANE Select NP_001035.1:n.653+1511G>C
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