Canonical Allele Identifier: CA804997743
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1267593055
gnomAD v3: 5-1444281-G-A
gnomAD v4: 5-1444281-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1444281G>A , CM000667.2:g.1444281G>A GRCh38
NC_000005.9:g.1444396G>A , CM000667.1:g.1444396G>A GRCh37
NC_000005.8:g.1497396G>A NCBI36
NG_015885.1:g.6148C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000270349.12:c.-45-1039C>T MANE Select ENSP00000270349.9:n.-45-1039C>T
ENST00000270349.11:c.-45-1039C>T ENSP00000270349.9:n.-45-1039C>T
NM_001044.4:c.-45-1039C>T NP_001035.1:n.-45-1039C>T
NM_001044.5:c.-45-1039C>T MANE Select NP_001035.1:n.-45-1039C>T