Canonical Allele Identifier: CA12075490
Gene: SLC6A3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1444312T>G
GRCh37 chr5:g.1444427T>G
gnomAD v2:
5:1444427 T / G
gnomAD v3:
5:1444312 T / G
gnomAD v4:
chr5-1444312-T-G
Joint Max Group AF 0.59645394 (NFE)
Genomes Max Group AF 0.59645394 (NFE)
dbSNP:
2963238
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1444312T>G , CM000667.2:g.1444312T>G GRCh38
NC_000005.9:g.1444427T>G , CM000667.1:g.1444427T>G GRCh37
NC_000005.8:g.1497427T>G NCBI36
NG_015885.1:g.6117A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-46+1036A>C MANE Select ENSP00000270349.9:n.-46+1036A>C
ENST00000270349.11:c.-46+1036A>C ENSP00000270349.9:n.-46+1036A>C
NM_001044.4:c.-46+1036A>C NP_001035.1:n.-46+1036A>C
NM_001044.5:c.-46+1036A>C MANE Select NP_001035.1:n.-46+1036A>C
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