Canonical Allele Identifier: CA12077347
Gene: SLC6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1261279
ClinVar RCV Id: RCV001671680
dbSNP Id: rs2975223
gnomAD v2: 5-1443603-T-C
gnomAD v3: 5-1443488-T-C
gnomAD v4: 5-1443488-T-C
MyVariant Identifiers: chr5:g.1443603T>C (hg19) chr5:g.1443488T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1443488T>C , CM000667.2:g.1443488T>C GRCh38
NC_000005.9:g.1443603T>C , CM000667.1:g.1443603T>C GRCh37
NC_000005.8:g.1496603T>C NCBI36
NG_015885.1:g.6941A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-45-246A>G MANE Select ENSP00000270349.9:n.-45-246A>G
ENST00000270349.11:c.-45-246A>G ENSP00000270349.9:n.-45-246A>G
NM_001044.4:c.-45-246A>G NP_001035.1:n.-45-246A>G
NM_001044.5:c.-45-246A>G MANE Select NP_001035.1:n.-45-246A>G
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