Canonical Allele Identifier: CA557555726
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs1267593055
gnomAD v2: 5-1444396-G-T
gnomAD v3: 5-1444281-G-T
gnomAD v4: 5-1444281-G-T

Genomic Alleles

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

Transcript Alleles

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