Canonical Allele Identifier: CA112958495
Gene: SLC6A3 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.1427996A>G
GRCh37 chr5:g.1428111A>G
gnomAD v2:
5:1428111 A / G
gnomAD v3:
5:1427996 A / G
gnomAD v4:
chr5-1427996-A-G
Joint Max Group AF 0.24673692 (NFE)
Genomes Max Group AF 0.24673692 (NFE)
dbSNP:
10052016
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1427996A>G , CM000667.2:g.1427996A>G GRCh38
NC_000005.9:g.1428111A>G , CM000667.1:g.1428111A>G GRCh37
NC_000005.8:g.1481111A>G NCBI36
NG_015885.1:g.22433T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.653+4468T>C MANE Select ENSP00000270349.9:n.653+4468T>C
ENST00000270349.11:c.653+4468T>C ENSP00000270349.9:n.653+4468T>C
NM_001044.4:c.653+4468T>C NP_001035.1:n.653+4468T>C
NM_001044.5:c.653+4468T>C MANE Select NP_001035.1:n.653+4468T>C
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