Canonical Allele Identifier: CA1522628027
Gene: SLC6A3 HGNC NCBI

Linked Data

dbSNP Id: rs562737012
gnomAD v4: 5-1414571-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.1414571C>T , CM000667.2:g.1414571C>T GRCh38
NC_000005.9:g.1414686C>T , CM000667.1:g.1414686C>T GRCh37
NC_000005.8:g.1467686C>T NCBI36
NG_015885.1:g.35858G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270349.12:c.1156+120G>A MANE Select ENSP00000270349.9:n.1156+120G>A
ENST00000270349.11:c.1156+120G>A ENSP00000270349.9:n.1156+120G>A
NM_001044.4:c.1156+120G>A NP_001035.1:n.1156+120G>A
NM_001044.5:c.1156+120G>A MANE Select NP_001035.1:n.1156+120G>A