Canonical Allele Identifier: CA112953969
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs990162691
gnomAD v4: 5-1394229-G-A
MyVariant Identifiers: chr5:g.1394344G>A (hg19) chr5:g.1394229G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1394229G>A , CM000667.2:g.1394229G>A GRCh38
NC_000005.9:g.1394344G>A , CM000667.1:g.1394344G>A GRCh37
NC_000005.8:g.1447344G>A NCBI36
NG_015885.1:g.56200C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.*506C>T MANE Select ENSP00000270349.9:n.*506C>T
ENST00000270349.11:c.*506C>T ENSP00000270349.9:n.*506C>T
ENST00000512002.2:n.750C>T
NM_001044.4:c.*506C>T NP_001035.1:n.*506C>T
NM_001044.5:c.*506C>T MANE Select NP_001035.1:n.*506C>T
Search 100 bp 5'
Search 100 bp 3'