Canonical Allele Identifier: CA557555725
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1214397490
gnomAD v2: 5-1444383-G-A
gnomAD v3: 5-1444268-G-A
gnomAD v4: 5-1444268-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1444268G>A , CM000667.2:g.1444268G>A GRCh38
NC_000005.9:g.1444383G>A , CM000667.1:g.1444383G>A GRCh37
NC_000005.8:g.1497383G>A NCBI36
NG_015885.1:g.6161C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-45-1026C>T MANE Select ENSP00000270349.9:n.-45-1026C>T
ENST00000270349.11:c.-45-1026C>T ENSP00000270349.9:n.-45-1026C>T
NM_001044.4:c.-45-1026C>T NP_001035.1:n.-45-1026C>T
NM_001044.5:c.-45-1026C>T MANE Select NP_001035.1:n.-45-1026C>T