Canonical Allele Identifier: CA1072520629
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756107823
gnomAD v3: 5-1410982-A-G
gnomAD v4: 5-1410982-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1410982A>G , CM000667.2:g.1410982A>G GRCh38
NC_000005.9:g.1411097A>G , CM000667.1:g.1411097A>G GRCh37
NC_000005.8:g.1464097A>G NCBI36
NG_015885.1:g.39447T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1269+261T>C MANE Select ENSP00000270349.9:n.1269+261T>C
ENST00000270349.11:c.1269+261T>C ENSP00000270349.9:n.1269+261T>C
NM_001044.4:c.1269+261T>C NP_001035.1:n.1269+261T>C
NM_001044.5:c.1269+261T>C MANE Select NP_001035.1:n.1269+261T>C