Canonical Allele Identifier: CA11915935
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs4975646
gnomAD v2: 5-1433401-G-A
gnomAD v3: 5-1433286-G-A
gnomAD v4: 5-1433286-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1433286G>A , CM000667.2:g.1433286G>A GRCh38
NC_000005.9:g.1433401G>A , CM000667.1:g.1433401G>A GRCh37
NC_000005.8:g.1486401G>A NCBI36
NG_015885.1:g.17143C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.419-588C>T MANE Select ENSP00000270349.9:n.419-588C>T
ENST00000270349.11:c.419-588C>T ENSP00000270349.9:n.419-588C>T
NM_001044.4:c.419-588C>T NP_001035.1:n.419-588C>T
NM_001044.5:c.419-588C>T MANE Select NP_001035.1:n.419-588C>T