Canonical Allele Identifier: CA804832236
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1409388214
gnomAD v3: 5-1423783-G-A
gnomAD v4: 5-1423783-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1423783G>A , CM000667.2:g.1423783G>A GRCh38
NC_000005.9:g.1423898G>A , CM000667.1:g.1423898G>A GRCh37
NC_000005.8:g.1476898G>A NCBI36
NG_015885.1:g.26646C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.654-1769C>T MANE Select ENSP00000270349.9:n.654-1769C>T
ENST00000270349.11:c.654-1769C>T ENSP00000270349.9:n.654-1769C>T
NM_001044.4:c.654-1769C>T NP_001035.1:n.654-1769C>T
NM_001044.5:c.654-1769C>T MANE Select NP_001035.1:n.654-1769C>T