Canonical Allele Identifier: CA12077349
Gene: SLC6A3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1443613T>C
GRCh37 chr5:g.1443728T>C
gnomAD v2:
5:1443728 T / C
gnomAD v3:
5:1443613 T / C
gnomAD v4:
chr5-1443613-T-C
Joint Max Group AF 0.5888145 (NFE)
Genomes Max Group AF 0.5888145 (NFE)
dbSNP:
2937639
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1443613T>C , CM000667.2:g.1443613T>C GRCh38
NC_000005.9:g.1443728T>C , CM000667.1:g.1443728T>C GRCh37
NC_000005.8:g.1496728T>C NCBI36
NG_015885.1:g.6816A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-45-371A>G MANE Select ENSP00000270349.9:n.-45-371A>G
ENST00000270349.11:c.-45-371A>G ENSP00000270349.9:n.-45-371A>G
NM_001044.4:c.-45-371A>G NP_001035.1:n.-45-371A>G
NM_001044.5:c.-45-371A>G MANE Select NP_001035.1:n.-45-371A>G
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