Canonical Allele Identifier: CA1072520667
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756109767
gnomAD v3: 5-1411072-GC-G
gnomAD v4: 5-1411072-GC-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1411076del , CM000667.2:g.1411076del GRCh38
NC_000005.9:g.1411191del , CM000667.1:g.1411191del GRCh37
NC_000005.8:g.1464191del NCBI36
NG_015885.1:g.39356del

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1269+170del MANE Select ENSP00000270349.9:n.1269+170del
ENST00000270349.11:c.1269+170del ENSP00000270349.9:n.1269+170del
NM_001044.4:c.1269+170del NP_001035.1:n.1269+170del
NM_001044.5:c.1269+170del MANE Select NP_001035.1:n.1269+170del