Canonical Allele Identifier: CA11915901
Gene: SLC6A3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1394962C>T
GRCh37 chr5:g.1395077C>T
gnomAD v2:
5:1395077 C / T
gnomAD v3:
5:1394962 C / T
gnomAD v4:
chr5-1394962-C-T
Joint Max Group AF 0.48870312 (AFR)
Genomes Max Group AF 0.48870312 (AFR)
ClinVar RCV:
RCV001611072
ClinVar Variation:
1225506
dbSNP:
40184
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1394962C>T , CM000667.2:g.1394962C>T GRCh38
NC_000005.9:g.1395077C>T , CM000667.1:g.1395077C>T GRCh37
NC_000005.8:g.1448077C>T NCBI36
NG_015885.1:g.55467G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1840-204G>A MANE Select ENSP00000270349.9:n.1840-204G>A
ENST00000270349.11:c.1840-204G>A ENSP00000270349.9:n.1840-204G>A
ENST00000512002.2:n.221-204G>A
NM_001044.4:c.1840-204G>A NP_001035.1:n.1840-204G>A
NM_001044.5:c.1840-204G>A MANE Select NP_001035.1:n.1840-204G>A
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