Canonical Allele Identifier: CA557555755
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs577826326
gnomAD v2: 5-1444719-G-T
gnomAD v3: 5-1444604-G-T
gnomAD v4: 5-1444604-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1444604G>T , CM000667.2:g.1444604G>T GRCh38
NC_000005.9:g.1444719G>T , CM000667.1:g.1444719G>T GRCh37
NC_000005.8:g.1497719G>T NCBI36
NG_015885.1:g.5825C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-46+744C>A MANE Select ENSP00000270349.9:n.-46+744C>A
ENST00000270349.11:c.-46+744C>A ENSP00000270349.9:n.-46+744C>A
NM_001044.4:c.-46+744C>A NP_001035.1:n.-46+744C>A
NM_001044.5:c.-46+744C>A MANE Select NP_001035.1:n.-46+744C>A