Canonical Allele Identifier: CA557569369
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1164210741
gnomAD v2: 5-1423901-C-G
gnomAD v3: 5-1423786-C-G
gnomAD v4: 5-1423786-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1423786C>G , CM000667.2:g.1423786C>G GRCh38
NC_000005.9:g.1423901C>G , CM000667.1:g.1423901C>G GRCh37
NC_000005.8:g.1476901C>G NCBI36
NG_015885.1:g.26643G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.654-1772G>C MANE Select ENSP00000270349.9:n.654-1772G>C
ENST00000270349.11:c.654-1772G>C ENSP00000270349.9:n.654-1772G>C
NM_001044.4:c.654-1772G>C NP_001035.1:n.654-1772G>C
NM_001044.5:c.654-1772G>C MANE Select NP_001035.1:n.654-1772G>C