Canonical Allele Identifier: CA112968617
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs181581841
gnomAD v2: 5-1423925-G-A
gnomAD v3: 5-1423810-G-A
gnomAD v4: 5-1423810-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1423810G>A , CM000667.2:g.1423810G>A GRCh38
NC_000005.9:g.1423925G>A , CM000667.1:g.1423925G>A GRCh37
NC_000005.8:g.1476925G>A NCBI36
NG_015885.1:g.26619C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.654-1796C>T MANE Select ENSP00000270349.9:n.654-1796C>T
ENST00000270349.11:c.654-1796C>T ENSP00000270349.9:n.654-1796C>T
NM_001044.4:c.654-1796C>T NP_001035.1:n.654-1796C>T
NM_001044.5:c.654-1796C>T MANE Select NP_001035.1:n.654-1796C>T