Canonical Allele Identifier: CA1072529581
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1756516757
gnomAD v3: 5-1423766-T-C
gnomAD v4: 5-1423766-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1423766T>C , CM000667.2:g.1423766T>C GRCh38
NC_000005.9:g.1423881T>C , CM000667.1:g.1423881T>C GRCh37
NC_000005.8:g.1476881T>C NCBI36
NG_015885.1:g.26663A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.654-1752A>G MANE Select ENSP00000270349.9:n.654-1752A>G
ENST00000270349.11:c.654-1752A>G ENSP00000270349.9:n.654-1752A>G
NM_001044.4:c.654-1752A>G NP_001035.1:n.654-1752A>G
NM_001044.5:c.654-1752A>G MANE Select NP_001035.1:n.654-1752A>G