Canonical Allele Identifier: CA2590929198
Gene: SLC6A3 HGNC NCBI

Linked Data

gnomAD v3: 5-1414443-G-GC
gnomAD v4: 5-1414443-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414445dup , CM000667.2:g.1414445dup GRCh38
NC_000005.9:g.1414560dup , CM000667.1:g.1414560dup GRCh37
NC_000005.8:g.1467560dup NCBI36
NG_015885.1:g.35985dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+247dup MANE Select ENSP00000270349.9:n.1156+247dup
ENST00000270349.11:c.1156+247dup ENSP00000270349.9:n.1156+247dup
NM_001044.4:c.1156+247dup NP_001035.1:n.1156+247dup
NM_001044.5:c.1156+247dup MANE Select NP_001035.1:n.1156+247dup