Canonical Allele Identifier: CA1072513876
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1733736488
gnomAD v3: 5-1443754-A-T
gnomAD v4: 5-1443754-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1443754A>T , CM000667.2:g.1443754A>T GRCh38
NC_000005.9:g.1443869A>T , CM000667.1:g.1443869A>T GRCh37
NC_000005.8:g.1496869A>T NCBI36
NG_015885.1:g.6675T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.-45-512T>A MANE Select ENSP00000270349.9:n.-45-512T>A
ENST00000270349.11:c.-45-512T>A ENSP00000270349.9:n.-45-512T>A
NM_001044.4:c.-45-512T>A NP_001035.1:n.-45-512T>A
NM_001044.5:c.-45-512T>A MANE Select NP_001035.1:n.-45-512T>A